Salta al contenuto principale
Passa alla visualizzazione normale.

Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”

Ascolta

Area di expertise:

-          diagnosi prenatale in gravidanze a rischio

-          malformazioni congenite, sindromi genetiche e cromosomopatie

PRINCIPALI PUBBLICAZIONI (2020-2022)

  • Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M, Radio FC, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Tartaglia M, Christodoulou J, White SM. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. Am J Hum Genet. 2020 Apr 2;106(4):559-569. doi: 10.1016/j.ajhg.2020.02.014. Epub 2020 Mar 19. PMID: 32197075; PMCID: PMC7118692.
  • Mercadante F, Busè M, Salzano E, Fragapane T, Palazzo D, Malacarne M, Piccione M. 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature. Ital J Pediatr. 2020 Jul 28;46(1):108. doi: 10.1186/s13052-020-00866-9. PMID: 32723361; PMCID: PMC7389890.
  • Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. PMID: 32170002.
  • Pavone P, Pappalardo XG, Marino SD, Sciuto L, Corsello G, Ruggieri M, Parano E, Piccione M, Falsaperla R. A novel GABRB3 variant in Dravet syndrome: Case report and literature review. Mol Genet Genomic Med. 2020 Nov;8(11):e1461. doi: 10.1002/mgg3.1461. Epub 2020 Sep 18. PMID: 32945607; PMCID: PMC7667356.
  • Balistreri CR, Ammoscato CL, Scola L, Fragapane T, Giarratana RM, Lio D, Piccione M. Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes. Genes (Basel). 2020 Nov 28;11(12):1428. doi: 10.3390/genes11121428. PMID: 33260695; PMCID: PMC7761327.
  • Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. PMID: 32641752; PMCID: PMC7852672
  • Spataro, I.A.Gambino, G.Piccione, M.Autismspectrum disorders (ASD): An earlydiagnosis in the first year of life | [Diagnosi precoce nel primo anno di vita dei disturbi dello spettro autistico (ASD)]Quaderni ACP 28(3), pp. 119, 2021
  • Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z. PMID: 34326454; PMCID: PMC8322329.
  • Kerkhof J, Squeo GM, McConkey H, Levy MA, Piemontese MR, Castori M, Accadia M, Biamino E, Della Monica M, Di Giacomo MC, Gervasini C, Maitz S, Melis D, Milani D, Piccione M, Prontera P, Selicorni A, Sadikovic B, Merla G. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies. Genet Med. 2022 Jan;24(1):51-60. doi: 10.1016/j.gim.2021.08.007. Epub 2021 Nov 30. PMID: 34906459.
  • Giambona A, Vinciguerra M, Leto F, Cassarà F, Cucinella G, Cigna V, Orlandi E, Piccione M, Picciotto F, Maggio A. Very early prenatal diagnosis of Cockayne's syndrome by coelocentesis. J Obstet Gynaecol. 2022 Jan 10:1-8. doi: 10.1080/01443615.2021.2014429. Epub ahead of print. PMID: 35006018.
  • Foroutan A, Haghshenas S, Bhai P, Levy MA, Kerkhof J, McConkey H, Niceta M, Ciolfi A, Pedace L, Miele E, Genevieve D, Heide S, Alders M, Zampino G, Merla G, Fradin M, Bieth E, Bonneau D, Dieterich K, Fergelot P, Schaefer E, Faivre L, Vitobello A, Maitz S, Fischetto R, Gervasini C, Piccione M, van de Laar I, Tartaglia M, Sadikovic B, Lebre AS. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome. Int J Mol Sci. 2022 Feb 5;23(3):1815. doi: 10.3390/ijms23031815. PMID: 35163737; PMCID: PMC8836705.
  • Poeta L, Malacarne M, Padula A, Drongitis D, Verrillo L, Lioi MB, Chiariello AM, Bianco S, Nicodemi M, Piccione M, Salzano E, Coviello D, Miano MG. Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. Int J Mol Sci. 2022 Mar 13;23(6):3084. doi: 10.3390/ijms23063084. PMID: 35328505; PMCID: PMC8955779.
  • Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. PMID: 35627165; PMCID: PMC9141874.
  • Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 Jul 29. doi: 10.1002/humu.24446. Epub ahead of print. PMID: 35904121

 

 

  • Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome (2022) Italian Journal of Pediatrics, 48 (1), art. no. 170, .
  • Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis (2022) Italian Journal of Pediatrics, 48 (1), art. no. 145, .
  • Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas (2022) Italian Journal of Pediatrics, 48 (1), art. no. 140, .
  • Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder (2022) Italian Journal of Pediatrics, 48 (1), art. no. 132, .
  • Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene (2022) Italian Journal of Pediatrics, 48 (1), art. no. 133, .
  • Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene (2022) Italian Journal of Pediatrics, 48 (1), art. no. 65, .
  • Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles (2022) Italian Journal of Pediatrics, 48 (1), art. no. 38, .
  • Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report (2022) Italian Journal of Pediatrics, 48 (1), art. no. 19, .
  • Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit (2022) Frontiers in Molecular Biosciences, 9, art. no. 887336, .
  • Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review (2022) Molecular Genetics and Genomic Medicine, 10 (5), art. no. e1911, .
  • Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis (2022) Journal of Medical Genetics, 59 (2), pp. 170-179.
  • A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations (2022) Journal of Paediatrics and Child Health, .
  • Clinical and genetic approach in the characterization of newborns with anorectal malformation (2022) Journal of Maternal-Fetal and Neonatal Medicine, 35 (23), pp. 4513-4520.
  • Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up (2021) Italian Journal of Pediatrics, 47 (1), art. no. 196, .
  • Jacobsen syndrome and neonatal bleeding: report on two unrelated patients (2021) Italian Journal of Pediatrics, 47 (1), art. no. 147, .
  • Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations (2021) Italian Journal of Pediatrics, 47 (1), art. no. 94, .
  • 2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype (2021) Clinical Case Reports, 9 (6), art. no. e04289, .
  • Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome (2020) Italian Journal of Pediatrics, 46 (1), art. no. 154, .
  • A novel cct5 missense variant associated with early onset motor neuropathy (2020) International Journal of Molecular Sciences, 21 (20), art. no. 7631, pp. 1-12.
  • Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient (2020) Italian Journal of Pediatrics, 46 (1), art. no. 140, .
  • Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation (2020) Italian Journal of Pediatrics, 46 (1), art. no. 136, .
  • Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report (2020) Italian Journal of Pediatrics, 46 (1), art. no. 135, .
  • What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs. (2020) Italian Journal of Pediatrics, 46 (1), art. no. 98, .
  • A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations (2020) Journal of Paediatrics and Child Health, 56 (8), p. 1315.
  • Growth patterns and associated risk factors of congenital malformations in twins (2020) Italian Journal of Pediatrics, 46 (1), art. no. 73, .
  • Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital (2020) Italian Journal of Pediatrics, 46 (1), art. no. 72, .
  • Recognizable neonatal clinical features of aplasia cutis congenita (2020) Italian Journal of Pediatrics, 46 (1), art. no. 25, .
  • Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation (2020) Early Human Development, 141, art. no. 104945, .
  • Large for gestational age, macrosomia, overgrowth: An update on definitions and determinants (2020) EuroMediterranean Biomedical Journal, 15 (29), pp. 116-120.
Ascolta
Arnold-Chiari sindrome di Arnold-Chiari syndrome
Microcefalia isolata o sindromica Isolated or syndromic microcephaly
Agenesia cerebellare Cerebellar agenesis
Joubert sindrome di Joubert syndrome
Lissencefalia isolata o sindromica Isolated or syndromic lissencephaly
Oloprosencefalia isolata o sindromica Isolated or syndromic holoprosencephaly
Agenesia/disgenesia del corpo calloso in forma isolata o sindromica Isolated or syndromic agenesis/dysgenesis of the corpus callosum
Andermann sindrome di Andermann syndrome
Dandy-Walker sindrome di Dandy-Walker syndrome
Aase-Smith sindrome di Aase-Smith syndrome
Neuroacantocitosi Neuroacanthocytosis
Sindrome acrocallosa Acrocallosal syndrome
Walker-Warburg sindrome di Walker-Warburg syndrome
Ben Ari-Shuper-Mimouni sindrome di Ben Ari-Shuper-Mimouni syndrome
Bonnemann-Meinecke sindrome di Bonnemann-Meinecke syndrome
Displasia cerebro-facio-toracica Cerebrofaciothoracic dysplasia
Sindrome idroletale Hydrolethal syndrome
TorielloC arey sindrome di TorielloC arey syndrome
Gerstmann sindrome di Gerstmann syndrome
Lenz sindrome di Lenz syndrome
Sindrome anoftalmia plus Anophthalmia plus syndrome
Foix-Chavany-Marie sindrome di Foix-Chavany-Marie syndrome
Axenfeld-Rieger anomalia di Axenfeld-Rieger anomaly of
Axenfeld-Rieger sindrome di Axenfeld-Rieger syndrome
Peters anomalia di Peters anomaly of
Aniridia Aniridia
Coloboma congenito oculare isolato o sindromico Isolated or syndromic congenital ocular coloboma
Coloboma congenito corioretinico Congenital chorioretinal coloboma
Coloboma congenito dell’iride Congenital coloboma of the iris
Coloboma congenito del disco ottico Congenital coloboma of the optic disc
Morning glory anomalia di Morning glory anomaly of
Persistenza della membrana pupillare Persistence of the pupillary membrane
Norrie malattia di Norrie's disease
Vogt-Koyanagi-Harada sindrome di Vogt-Koyanagi-Harada syndrome
Displasia setto-ottica Septo-optic dysplasia
Fraser sindrome di Fraser syndrome
Weill-Marchesani sindrome di Weill-Marchesani syndrome
Aicardi sindrome di Aicardi syndrome
Baraitser-Winter sindrome di Baraitser-Winter syndrome
Nance-Horan sindrome di Nance-Horan syndrome
Sindrome cerebrooculo-nasale Cerebrooculonasal syndrome
Sindrome CODAS CODAS syndrome
Sindromi con craniosinostosi Syndromes with craniosynostosis
Acrocefalosindattilia Acrocephalosyndactyly
Apert sindrome di Open syndrome
C sindrome C syndrome
Goodman sindrome di Goodman syndrome
Hallerman-Streiff sindrome di Hallerman-Streiff syndrome
Pierre-Robin sindrome di Pierre-Robin syndrome
Treacher-Collins sindrome di Treacher-Collins syndrome
Antley-Bixler sindrome di Antley-Bixler syndrome
Baller-Gerold sindrome di Baller-Gerold syndrome
Carpenter sindrome di Carpenter syndrome
Pfeiffer sindrome di Pfeiffer syndrome
Summitt sindrome di Summitt syndrome
Jackson-Weiss sindrome di Jackson-Weiss syndrome
Nager sindrome di Nager syndrome
Cranio-fronto-nasale sindrome Craniofrontonasal syndrome
Craniosinostosi primaria Primary craniosynostosis
Crouzon malattia di Crouzon's disease
Disostosi cleidocranica Cleidocranial dysostosis
Disostosi mandibolofacciale Mandibulofacial dysostosis
Disostosi maxillofacciale Maxillofacial dysostosis
Displasia frontofacionasale Frontofaceonasal dysplasia
Displasia mandibolo-acrale Mandibulacral dysplasia
Displasia maxillonasale Maxillonasal dysplasia
Palatoschisi isolata o sindromica Isolated or syndromic cleft palate
Mohr malattia di Mohr's disease
Moebius sindrome di Moebius syndrome
Oculofaciocardiodentale sindrome Oculofaciocardiodental syndrome
Oro-facio-digitale sindrome di tipo 1 Oro-facio-digitalis syndrome type 1
Schinzel-Giedion sindrome di Schinzel-Giedion syndrome
Goldenhar sindrome di Goldenhar syndrome
Sindrome cefalopolisindattilia di Greig Greig's cephalopolysyndactyly syndrome
Sindrome oto-palato-digitale Oto-palato-digital syndrome
Focomelia Phocomelia
Deformità di Sprengel Sprengel deformity
Camptodattilia familiare Familial camptodactyly
Poland sindrome di Poland syndrome
Sindrome femoro-facciale Femoral facial syndrome
Sindromi con artrogriposi multiple congenite Syndromes with congenital arthrogryposis multiplex
Roberts sindrome di Roberts syndrome
Sindrome trisma pseudocamptodattilia Trismus pseudocamptodactyly syndrome
Freeman-Sheldon sindrome di Freeman-Sheldon syndrome
Sequenza da ipocinesia fetale Sequence from fetal hypokinesia
Sindrome da pterigi multipli Multiple pterygia syndrome
principale principal
Sindrome RAPADILINO RAPADILINO syndrome
Sequenza sirenomelica Sirenomela sequence
Adams-Oliver sindrome di Adams-Oliver syndrome
Sindrome trombocitopenica con aplasia del radio Thrombocytopenic syndrome with radial aplasia
Cuore criss-cross Criss cross heart
Ebstein anomalia di Ebstein anomaly of
Sindrome del cuore sinistro ipoplasico Hypoplastic left heart syndrome
Blue rubber bleb nevus Blue rubber bleb nevus
Ivemark sindrome di Ivemark syndrome
Klippel-Trenaunay sindrome di Klippel-Trenaunay syndrome
Aneurisma della vena di Galeno Aneurysm of the vein of Galen
Malformazione arterovenosa cerebrale Cerebral arteriovenous malformation
Malformazione cavernosa cerebrale ereditaria Hereditary cerebral cavernous malformation
Malformazione cranica del seno durale Cranial malformation of the dural sinus
Sindrome CLOVE CLOVE syndrome
Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM) Capillary malformation arteriovenous malformation syndrome (MAVM)
Sindrome metamerica arterovenosa cerebrofacciale Cerebrofacial arteriovenous metameric syndrome
Klippel-Feil sindrome di Klippel-Feil syndrome
Gastroschisi Gastroschisis
Sindrome Prune Belly Prune Belly Syndrome
Onfalocele Omphalocele
Pentalogia di Cantrell Cantrell pentalogy
Malformazione ano-rettale in forma isolata o sindromica Anorectal malformation in isolated or syndromic form
Hirschsprung malattia di Hirschsprung's disease
Goldberg-Shprintzen sindrome di Goldberg-Shprintzen syndrome
Atresia biliare Biliary atresia
Caroli malattia di Caroli's disease
Malattia del fegato policistico Polycystic liver disease
Atresia ileale Ileal atresia
Atresia colica Colic atresia
Atresia intestinale multipla Multiple intestinal atresia
Cloaca persistente Persistent cloaca
Duplicazioni del tubo digerente Duplications of the digestive tract
Complesso OEIS OEIS complex
Atresia esofagea e/o fistola – tracheoesofagea Esophageal atresia and/or tracheoesophageal fistula
Atresia del digiuno Fasting atresia
Atresia o stenosi duodenale Atresia or duodenal stenosis
Ipoplasia/Aplasia della muscolatura della parete gastrica Hypoplasia/Aplasia of the muscles of the gastric wall
Microgastria Microgastria
Sindrome dell’intestino corto congenito Congenital short bowel syndrome
Rene con midollare a spugna Kidney with medullary sponge
Malattia renale cistica genetica Genetic cystic kidney disease (excluded: autosomal dominant polycystic kidney)
Senior-Loken sindrome di Senior-Loken syndrome
Rene policistico autosomico recessivo Autosomal recessive polycystic kidney disease
Meckel sindrome di Meckel syndrome
Estrofia vescicale Bladder exstrophy
Gonadico e/o fenotipo Gonadal and/or phenotype
Disgenesia gonadica gonadal dysgenesis
Perrault sindrome di Perrault syndrome
Sindrome da insensibilità completa agli androgeni Complete androgen insensitivity syndrome
Sindrome da insensibilità parziale agli androgeni Partial androgen insensitivity syndrome
Pseudoermafroditismi Pseudohermaphroditism
Denys Drash sindrome di Denys Drash Syndrome
Ermafroditismo vero True hermaphroditism
cariotipo/sviluppo gonadico e/o fenotipo karyotype/gonadal development and/or phenotype
Frasier sindrome di Frasier syndrome
Sindrome SERKAL SERKAL syndrome
Afallia Afallia
Epispadia Epispadias
Megalouretra Megalourethra
Mayer Rokitansky Kuster Hauser sindrome di Mayer Rokitansky Kuster Hauser syndrome
Acrodisostosi Acrodysostosis
Sindrome da regressione caudale Caudal regression syndrome
Acondrogenesi Achondrogenesis
Acondroplasia Achondroplasia
Condrodisplasia letale Lethal chondrodysplasia
Condrodisplasia metafisaria Metaphyseal chondrodysplasia
Condrodisplasia tipo Blomstrand Chondrodysplasia Blomstrand type
Condrodistrofia congenita non tipizzata Untyped congenital chondrodystrophy
Desbuquois sindrome di Desbuquois syndrome
Displasia acromicrica Achromic dysplasia
Displasia epifisaria emimelica Hemimelic epiphyseal dysplasia
Displasia metatropica Metatropic dysplasia
Displasia otospondilomegaepifisaria Otospondylomegaepiphyseal dysplasia
Displasia pseudoreumatoide progressiva Progressive pseudorheumatoid dysplasia
Distrofia toracica asfissiante Asphyxiating thoracic dystrophy
Encondromatosi multipla Multiple enchondromatosis
Esostosi multipla Multiple exostosis
Ipocondroplasia Hypochondroplasia
Keutel sindrome di Keutel syndrome
Kniest displasia Kniest dysplasia
Larsen sindrome di Larsen syndrome
Schwartz-J ampel sindrome di Schwartz-J ampel syndrome
Sindrome camptomelica Camptomelic syndrome
Atelosteogenesi Atelosteogenesis
Buschke-Ollendorff sindrome di Buschke-Ollendorff syndrome
Conradi Hunermann Happle sindrome di Conradi Hunermann Happle syndrome
Discondrosteosi dyschondrosteosis
Displasia craniometafisaria Craniometaphyseal dysplasia
Displasia diastrofica e pseudodiastrofica Diastrophic and pseudodiastrophic dysplasia
Displasia fibrosa Fibrous dysplasia
Displasia gnatodiafisaria Gnathodiaphyseal dysplasia
Displasia spondiloepifisaria Spondyloepiphyseal dysplasia
Displasia spondilometafisaria Spondylometaphyseal dysplasia
Ellis-van Creveld sindrome di Ellis-van Creveld syndrome
Engelmann malattia di Engelmann's disease
Fairbank malattia di Fairbank's disease
Frank-Ter Haar sindrome di Frank-Ter Haar Syndrome
Hajdu Cheney sindrome di Hajdu Cheney syndrome
Mc Cune Albright sindrome di McCune Albright Syndrome
Osteodistrofia congenita non tipizzata Untyped congenital osteodystrophy
Osteogenesi imperfetta Osteogenesis imperfecta
Osteopetrosi Osteopetrosis
Picnodisostosi Pycnodysostosis
Sindrome DOOR DOOR syndrome
Sindrome osteoporosi-pseudoganglioma Osteoporosis-pseudoganglioma syndrome
Maffucci sindrome di Maffucci syndrome
Displasia spondiloepifisaria congenita Congenital spondyloepiphyseal dysplasia
Dyggve Melchior Clausen (DMC ) sindrome di Dyggve Melchior Clausen (DMC ) syndrome
Jarcho-Levin sindrome di Jarcho-Levin syndrome
Sindromi da aneuploidia cromosomica Chromosomal aneuploidy syndromes
Turner sindrome di Turner syndrome
Pallister-Killian sindrome di Pallister-Killian syndrome
Sindrome del Cri Du Chat Cri Du Chat Syndrome
WAGR sindrome di WAGR syndrome
Williams sindrome di Williams syndrome
Wolf-Hirschhorn sindrome di Wolf-Hirschhorn syndrome
Sindrome del cromosoma X fragile Fragile X chromosome syndrome
Loeys-Dietz sindrome di Loeys-Dietz syndrome
Shprintzen-Goldberg sindrome di Shprintzen-Goldberg syndrome
Marfan sindrome di Marfan syndrome
Ehlers Danlos sindrome di Ehlers Danlos Syndrome
Stickler sindrome di Stickler syndrome
Nanismo osteodisplastico microcefalico primitivo (MOPD) Primary microcephalic osteodysplastic dwarfism (MOPD)
Aarskog sindrome di Aarskog syndrome
Dubowitz sindrome di Dubowitz syndrome
Robinow sindrome di Robinow syndrome
Russell Silver sindrome di Russell Silver Syndrome
Seckel sindrome di Seckel syndrome
SHORT sindrome SHORT syndrome
Emiipertrofia congenita Congenital hemihypertrophy
Beckwith-Wiedemann sindrome di Beckwith-Wiedemann syndrome
Sotos sindrome di Sotos syndrome
Weaver sindrome di Weaver syndrome
Simpson-Golabi-Behmel sindrome di Simpson-Golabi-Behmel syndrome
Marshall-Smith sindrome di Marshall-Smith syndrome
sindromi note) known syndromes)
Alagille sindrome di Alagille syndrome
Alstrom sindrome di Alstrom syndrome
Amartomatosi multiple Multiple hamartomatosis
Bannayan-Zonana sindrome di Bannayan-Zonana syndrome
BirtHoggDubè sindrome di BirtHoggDub's syndrome
Complesso di Von Meyenburg Von Meyenburg complex
Cowden malattia di Cowden's disease
Sclerosi tuberosa Tuberous sclerosis
Peutz-J eghers sindrome di Peutz-J eghers syndrome
Sturge-Weber sindrome di Sturge-Weber syndrome
Von Hippel-Lindau sindrome di Von Hippel-Lindau syndrome
Sindrome proteus Proteus syndrome
Angelman sindrome di Angelman syndrome
Associazione VACTERL/VATER VACTERL/VATER association
Bardet-Biedl sindrome di Bardet-Biedl syndrome
Bloom sindrome di Bloom syndrome
Borjeson-Forssman-Lehmann sindrome di Borjeson-Forssman-Lehmann syndrome
Char sindrome di Char syndrome
Coffin-Lowry sindrome di Coffin-Lowry syndrome
Coffin-Siris sindrome di Coffin-Siris syndrome
Cohen sindrome di Cohen syndrome
Cornelia De Lange sindrome di Cornelia De Lange Syndrome
Costello sindrome di Costello syndrome
Noonan sindrome di Noonan syndrome
Sindrome cardiofaciocutanea Cardiofaciocutaneous syndrome
Leopard sindrome Leopard syndrome
De Sanctis Cacchione malattia di De Sanctis Cacchione disease of
Displasia oculo-digito-dentale Oculo-digital-dental dysplasia
Filippi sindrome di Philippi syndrome
Sindrome FG FG syndrome
Fine-Lubinsky sindrome di Fine-Lubinsky syndrome
Fryns sindrome di Fryns syndrome
Hermansky-Pudlak sindrome di Hermansky-Pudlak syndrome
Holt-Oram sindrome di Holt-Oram syndrome
LevyHollister sindrome di LevyHollister syndrome
Lowe sindrome di Lowe syndrome
Mainzer-Saldino sindrome di Mainzer-Saldino syndrome
Marshall sindrome di Marshall syndrome
Opitz sindrome di Opitz syndrome
Pallister-Hall sindrome di Pallister-Hall syndrome
Pallister-W sindrome di Pallister-W syndrome
Parry-Romberg sindrome di Parry-Romberg syndrome
Prader-Willi sindrome di Prader-Willi syndrome
Rubinstein-Taybi sindrome di Rubinstein-Taybi syndrome
Sindrome branchio-oculo-facciale Branchio-oculo-facial syndrome
Sindrome branchio-oto-renale Branchio-oto-renal syndrome
Sindrome cardiofacciale di Cayler Cayler's cardiofacial syndrome
Sindrome cerebrocostomandibolare Cerebrocostomandibular syndrome
Sindrome cerebrooculo-facio-scheletrica Cerebrooculofacioskeletal syndrome
CHARGE associazione CHARGE association
Sindrome Kabuki Kabuki syndrome
Sindrome megalocornea-ritardo mentale Megalocornea-mental retardation syndrome
Sindrome nail-patella Nail-patella syndrome
Sindrome oculo-cerebro-cutanea Oculocerebrocutaneous syndrome
Sindromi progeroidi Progeroid syndromes
Hutchinson-Gilford sindrome di Hutchinson-Gilford syndrome
Poichiloderma congenito Congenital poikiloderma
Wiedemann-Rautenstrauch sindrome di Wiedemann-Rautenstrauch syndrome
Werner sindrome di Werner syndrome
Cockayne sindrome di Cockayne syndrome
Sindrome tricorino-falangea Trichorinophalangeal syndrome
Smith-Magenis sindrome di Smith-Magenis syndrome
Townes-Brocks sindrome di Townes-Brocks syndrome
Sindromi di Waardenburg Waardenburg syndromes
Waandenburg tipo 1 sindrome di Waandenburg type 1 syndrome
Waandenburg tipo 2 sindrome di Waandenburg type 2 syndrome
Waandenburg tipo 3 sindrome di Waandenburg type 3 syndrome
Wildervanck sindrome di Wildervanck syndrome
Winchester sindrome di Winchester syndrome
Wolfram sindrome di Wolfram syndrome
Ascolta
Arnold-Chiari sindrome di Arnold-Chiari syndrome
Microcefalia isolata o sindromica Isolated or syndromic microcephaly
Agenesia cerebellare Cerebellar agenesis
Joubert sindrome di Joubert syndrome
Lissencefalia isolata o sindromica Isolated or syndromic lissencephaly
Oloprosencefalia isolata o sindromica Isolated or syndromic holoprosencephaly
Andermann sindrome di Andermann syndrome
Dandy-Walker sindrome di Dandy-Walker syndrome
Aase-Smith sindrome di Aase-Smith syndrome
Neuroacantocitosi Neuroacanthocytosis
Sindrome acrocallosa Acrocallosal syndrome
Walker-Warburg sindrome di Walker-Warburg syndrome
Ben Ari-Shuper-Mimouni sindrome di Ben Ari-Shuper-Mimouni syndrome
Bonnemann-Meinecke sindrome di Bonnemann-Meinecke syndrome
Displasia cerebro-facio-toracica Cerebrofaciothoracic dysplasia
Sindrome idroletale Hydrolethal syndrome
TorielloC arey sindrome di TorielloC arey syndrome
Gerstmann sindrome di Gerstmann syndrome
Lenz sindrome di Lenz syndrome
Sindrome anoftalmia plus Anophthalmia plus syndrome
Foix-Chavany-Marie sindrome di Foix-Chavany-Marie syndrome
Axenfeld-Rieger anomalia di Axenfeld-Rieger anomaly of
Axenfeld-Rieger sindrome di Axenfeld-Rieger syndrome
Peters anomalia di Peters anomaly of
Aniridia Aniridia
Coloboma congenito corioretinico Congenital chorioretinal coloboma
Coloboma congenito dell’iride Congenital coloboma of the iris
Coloboma congenito del disco ottico Congenital coloboma of the optic disc
Morning glory anomalia di Morning glory anomaly of
Persistenza della membrana pupillare Persistence of the pupillary membrane
Norrie malattia di Norrie's disease
Vogt-Koyanagi-Harada sindrome di Vogt-Koyanagi-Harada syndrome
Displasia setto-ottica Septo-optic dysplasia
Fraser sindrome di Fraser syndrome
Weill-Marchesani sindrome di Weill-Marchesani syndrome
Aicardi sindrome di Aicardi syndrome
Baraitser-Winter sindrome di Baraitser-Winter syndrome
Nance-Horan sindrome di Nance-Horan syndrome
Sindrome cerebrooculo-nasale Cerebrooculonasal syndrome
Sindrome CODAS CODAS syndrome
Acrocefalosindattilia Acrocephalosyndactyly
Apert sindrome di Open syndrome
C sindrome C syndrome
Goodman sindrome di Goodman syndrome
Hallerman-Streiff sindrome di Hallerman-Streiff syndrome
Pierre-Robin sindrome di Pierre-Robin syndrome
Treacher-Collins sindrome di Treacher-Collins syndrome
Antley-Bixler sindrome di Antley-Bixler syndrome
Baller-Gerold sindrome di Baller-Gerold syndrome
Carpenter sindrome di Carpenter syndrome
Pfeiffer sindrome di Pfeiffer syndrome
Summitt sindrome di Summitt syndrome
Jackson-Weiss sindrome di Jackson-Weiss syndrome
Nager sindrome di Nager syndrome
Cranio-fronto-nasale sindrome Craniofrontonasal syndrome
Craniosinostosi primaria Primary craniosynostosis
Crouzon malattia di Crouzon's disease
Disostosi cleidocranica Cleidocranial dysostosis
Disostosi mandibolofacciale Mandibulofacial dysostosis
Disostosi maxillofacciale Maxillofacial dysostosis
Displasia frontofacionasale Frontofaceonasal dysplasia
Displasia mandibolo-acrale Mandibulacral dysplasia
Displasia maxillonasale Maxillonasal dysplasia
Palatoschisi isolata o sindromica Isolated or syndromic cleft palate
Mohr malattia di Mohr's disease
Moebius sindrome di Moebius syndrome
Oculofaciocardiodentale sindrome Oculofaciocardiodental syndrome
Oro-facio-digitale sindrome di tipo 1 Oro-facio-digitalis syndrome type 1
Schinzel-Giedion sindrome di Schinzel-Giedion syndrome
Goldenhar sindrome di Goldenhar syndrome
Sindrome cefalopolisindattilia di Greig Greig's cephalopolysyndactyly syndrome
Sindrome oto-palato-digitale Oto-palato-digital syndrome
Focomelia Phocomelia
Deformità di Sprengel Sprengel deformity
Camptodattilia familiare Familial camptodactyly
Poland sindrome di Poland syndrome
Sindrome femoro-facciale Femoral facial syndrome
Sindromi con artrogriposi multiple congenite Syndromes with congenital arthrogryposis multiplex
Roberts sindrome di Roberts syndrome
Sindrome trisma pseudocamptodattilia Trismus pseudocamptodactyly syndrome
Freeman-Sheldon sindrome di Freeman-Sheldon syndrome
Sequenza da ipocinesia fetale Sequence from fetal hypokinesia
Sindrome da pterigi multipli Multiple pterygia syndrome
Sindrome RAPADILINO RAPADILINO syndrome
Sequenza sirenomelica Sirenomela sequence
Adams-Oliver sindrome di Adams-Oliver syndrome
Sindrome trombocitopenica con aplasia del radio Thrombocytopenic syndrome with radial aplasia
Cuore criss-cross Criss cross heart
Ebstein anomalia di Ebstein anomaly of
Sindrome del cuore sinistro ipoplasico Hypoplastic left heart syndrome
Blue rubber bleb nevus Blue rubber bleb nevus
Ivemark sindrome di Ivemark syndrome
Klippel-Trenaunay sindrome di Klippel-Trenaunay syndrome
Aneurisma della vena di Galeno Aneurysm of the vein of Galen
Malformazione arterovenosa cerebrale Cerebral arteriovenous malformation
Malformazione cavernosa cerebrale ereditaria Hereditary cerebral cavernous malformation
Malformazione cranica del seno durale Cranial malformation of the dural sinus
Sindrome CLOVE CLOVE syndrome
Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM) Capillary malformation arteriovenous malformation syndrome (MAVM)
Sindrome metamerica arterovenosa cerebrofacciale Cerebrofacial arteriovenous metameric syndrome
Klippel-Feil sindrome di Klippel-Feil syndrome
Gastroschisi Gastroschisis
Sindrome Prune Belly Prune Belly Syndrome
Onfalocele Omphalocele
Pentalogia di Cantrell Cantrell pentalogy
Malformazione ano-rettale in forma isolata o sindromica Anorectal malformation in isolated or syndromic form
Hirschsprung malattia di Hirschsprung's disease
Goldberg-Shprintzen sindrome di Goldberg-Shprintzen syndrome
Atresia biliare Biliary atresia
Caroli malattia di Caroli's disease
Malattia del fegato policistico Polycystic liver disease
Atresia ileale Ileal atresia
Atresia colica Colic atresia
Atresia intestinale multipla Multiple intestinal atresia
Cloaca persistente Persistent cloaca
Duplicazioni del tubo digerente Duplications of the digestive tract
Complesso OEIS OEIS complex
Atresia esofagea e/o fistola – tracheoesofagea Esophageal atresia and/or tracheoesophageal fistula
Atresia del digiuno Fasting atresia
Atresia o stenosi duodenale Atresia or duodenal stenosis
Ipoplasia/Aplasia della muscolatura della parete gastrica Hypoplasia/Aplasia of the muscles of the gastric wall
Microgastria Microgastria
Sindrome dell’intestino corto congenito Congenital short bowel syndrome
Rene con midollare a spugna Kidney with medullary sponge
Malattia renale cistica genetica Genetic cystic kidney disease
Senior-Loken sindrome di Senior-Loken syndrome
Rene policistico autosomico recessivo Autosomal recessive polycystic kidney disease
Meckel sindrome di Meckel syndrome
Estrofia vescicale Bladder exstrophy
Gonadico e/o fenotipo Gonadal and/or phenotype
Disgenesia gonadica gonadal dysgenesis
Perrault sindrome di Perrault syndrome
Sindrome da insensibilità completa agli androgeni Complete androgen insensitivity syndrome
Sindrome da insensibilità parziale agli androgeni Partial androgen insensitivity syndrome
Pseudoermafroditismi Pseudohermaphroditism
Denys Drash sindrome di Denys Drash Syndrome
Ermafroditismo vero True hermaphroditism
cariotipo/sviluppo gonadico e/o fenotipo karyotype/gonadal development and/or phenotype
Frasier sindrome di Frasier syndrome
Sindrome SERKAL SERKAL syndrome
Afallia Afallia
Epispadia Epispadias
Megalouretra Megalourethra
Mayer Rokitansky Kuster Hauser sindrome di Mayer Rokitansky Kuster Hauser syndrome
Acrodisostosi Acrodysostosis
Sindrome da regressione caudale Caudal regression syndrome
Acondrogenesi Achondrogenesis
Acondroplasia Achondroplasia
Condrodisplasia letale Lethal chondrodysplasia
Condrodisplasia metafisaria Metaphyseal chondrodysplasia
Condrodisplasia tipo Blomstrand Chondrodysplasia Blomstrand type
Condrodistrofia congenita non tipizzata Untyped congenital chondrodystrophy
Desbuquois sindrome di Desbuquois syndrome
Displasia acromicrica Achromic dysplasia
Displasia epifisaria emimelica Hemimelic epiphyseal dysplasia
Displasia metatropica Metatropic dysplasia
Displasia otospondilomegaepifisaria Otospondylomegaepiphyseal dysplasia
Displasia pseudoreumatoide progressiva Progressive pseudorheumatoid dysplasia
Distrofia toracica asfissiante Asphyxiating thoracic dystrophy
Encondromatosi multipla Multiple enchondromatosis
Esostosi multipla Multiple exostosis
Ipocondroplasia Hypochondroplasia
Keutel sindrome di Keutel syndrome
Kniest displasia Kniest dysplasia
Larsen sindrome di Larsen syndrome
Schwartz-J ampel sindrome di Schwartz-J ampel syndrome
Sindrome camptomelica Camptomelic syndrome
Atelosteogenesi Atelosteogenesis
Buschke-Ollendorff sindrome di Buschke-Ollendorff syndrome
Conradi Hunermann Happle sindrome di Conradi Hunermann Happle syndrome
Discondrosteosi dyschondrosteosis
Displasia craniometafisaria Craniometaphyseal dysplasia
Displasia diastrofica e pseudodiastrofica Diastrophic and pseudodiastrophic dysplasia
Displasia fibrosa Fibrous dysplasia
Displasia gnatodiafisaria Gnathodiaphyseal dysplasia
Displasia spondiloepifisaria Spondyloepiphyseal dysplasia
Displasia spondilometafisaria Spondylometaphyseal dysplasia
Ellis-van Creveld sindrome di Ellis-van Creveld syndrome
Engelmann malattia di Engelmann's disease
Fairbank malattia di Fairbank's disease
Frank-Ter Haar sindrome di Frank-Ter Haar Syndrome
Hajdu Cheney sindrome di Hajdu Cheney syndrome
Mc Cune Albright sindrome di McCune Albright Syndrome
Osteodistrofia congenita non tipizzata Untyped congenital osteodystrophy
Osteogenesi imperfetta Osteogenesis imperfecta
Osteopetrosi Osteopetrosis
Picnodisostosi Pycnodysostosis
Sindrome DOOR DOOR syndrome
Sindrome osteoporosi-pseudoganglioma Osteoporosis-pseudoganglioma syndrome
Maffucci sindrome di Maffucci syndrome
Displasia spondiloepifisaria congenita Congenital spondyloepiphyseal dysplasia
Dyggve Melchior Clausen (DMC ) sindrome di Dyggve Melchior Clausen (DMC ) syndrome
Jarcho-Levin sindrome di Jarcho-Levin syndrome
Sindromi da aneuploidia cromosomica Chromosomal aneuploidy syndromes
Turner sindrome di Turner syndrome
Pallister-Killian sindrome di Pallister-Killian syndrome
Sindrome del Cri Du Chat Cri Du Chat Syndrome
WAGR sindrome di WAGR syndrome
Williams sindrome di Williams syndrome
Wolf-Hirschhorn sindrome di Wolf-Hirschhorn syndrome
Sindrome del cromosoma X fragile Fragile X chromosome syndrome
Loeys-Dietz sindrome di Loeys-Dietz syndrome
Shprintzen-Goldberg sindrome di Shprintzen-Goldberg syndrome
Marfan sindrome di Marfan syndrome
Ehlers Danlos sindrome di Ehlers Danlos Syndrome
Stickler sindrome di Stickler syndrome
Nanismo osteodisplastico microcefalico primitivo (MOPD) Primary microcephalic osteodysplastic dwarfism (MOPD)
Aarskog sindrome di Aarskog syndrome
Dubowitz sindrome di Dubowitz syndrome
Robinow sindrome di Robinow syndrome
Russell Silver sindrome di Russell Silver Syndrome
Seckel sindrome di Seckel syndrome
SHORT sindrome SHORT syndrome
Emiipertrofia congenita Congenital hemihypertrophy
Beckwith-Wiedemann sindrome di Beckwith-Wiedemann syndrome
Sotos sindrome di Sotos syndrome
Weaver sindrome di Weaver syndrome
Simpson-Golabi-Behmel sindrome di Simpson-Golabi-Behmel syndrome
Marshall-Smith sindrome di Marshall-Smith syndrome
sindromi note) known syndromes)
Alagille sindrome di Alagille syndrome
Alstrom sindrome di Alstrom syndrome
Amartomatosi multiple Multiple hamartomatosis
Bannayan-Zonana sindrome di Bannayan-Zonana syndrome
BirtHoggDubè sindrome di BirtHoggDub's syndrome
Complesso di Von Meyenburg Von Meyenburg complex
Cowden malattia di Cowden's disease
Sclerosi tuberosa Tuberous sclerosis
Peutz-J eghers sindrome di Peutz-J eghers syndrome
Sturge-Weber sindrome di Sturge-Weber syndrome
Von Hippel-Lindau sindrome di Von Hippel-Lindau syndrome
Sindrome proteus Proteus syndrome
Angelman sindrome di Angelman syndrome
Associazione VACTERL/VATER VACTERL/VATER association
Bardet-Biedl sindrome di Bardet-Biedl syndrome
Bloom sindrome di Bloom syndrome
Borjeson-Forssman-Lehmann sindrome di Borjeson-Forssman-Lehmann syndrome
Char sindrome di Char syndrome
Coffin-Lowry sindrome di Coffin-Lowry syndrome
Coffin-Siris sindrome di Coffin-Siris syndrome
Cohen sindrome di Cohen syndrome
Cornelia De Lange sindrome di Cornelia De Lange Syndrome
Costello sindrome di Costello syndrome
Noonan sindrome di Noonan syndrome
Sindrome cardiofaciocutanea Cardiofaciocutaneous syndrome
Leopard sindrome Leopard syndrome
De Sanctis Cacchione malattia di De Sanctis Cacchione disease of
Displasia oculo-digito-dentale Oculo-digital-dental dysplasia
Filippi sindrome di Philippi syndrome
Sindrome FG FG syndrome
Fine-Lubinsky sindrome di Fine-Lubinsky syndrome
Fryns sindrome di Fryns syndrome
Hermansky-Pudlak sindrome di Hermansky-Pudlak syndrome
Holt-Oram sindrome di Holt-Oram syndrome
LevyHollister sindrome di LevyHollister syndrome
Lowe sindrome di Lowe syndrome
Mainzer-Saldino sindrome di Mainzer-Saldino syndrome
Marshall sindrome di Marshall syndrome
Opitz sindrome di Opitz syndrome
Pallister-Hall sindrome di Pallister-Hall syndrome
Pallister-W sindrome di Pallister-W syndrome
Parry-Romberg sindrome di Parry-Romberg syndrome
Prader-Willi sindrome di Prader-Willi syndrome
Rubinstein-Taybi sindrome di Rubinstein-Taybi syndrome
Sindrome branchio-oculo-facciale Branchio-oculo-facial syndrome
Sindrome branchio-oto-renale Branchio-oto-renal syndrome
Sindrome cardiofacciale di Cayler Cayler's cardiofacial syndrome
Sindrome cerebrocostomandibolare Cerebrocostomandibular syndrome
Sindrome cerebrooculo-facio-scheletrica Cerebrooculofacioskeletal syndrome
CHARGE associazione CHARGE association
Sindrome Kabuki Kabuki syndrome
Sindrome megalocornea-ritardo mentale Megalocornea-mental retardation syndrome
Sindrome nail-patella Nail-patella syndrome
Sindrome oculo-cerebro-cutanea Oculocerebrocutaneous syndrome
Sindromi progeroidi Progeroid syndromes
Hutchinson-Gilford sindrome di Hutchinson-Gilford syndrome
Poichiloderma congenito Congenital poikiloderma
Wiedemann-Rautenstrauch sindrome di Wiedemann-Rautenstrauch syndrome
Werner sindrome di Werner syndrome
Cockayne sindrome di Cockayne syndrome
Sindrome tricorino-falangea Trichorinophalangeal syndrome
Smith-Magenis sindrome di Smith-Magenis syndrome
Townes-Brocks sindrome di Townes-Brocks syndrome
Sindromi di Waardenburg Waardenburg syndromes
Waandenburg tipo 1 sindrome di Waandenburg type 1 syndrome
Waandenburg tipo 2 sindrome di Waandenburg type 2 syndrome
Waandenburg tipo 3 sindrome di Waandenburg type 3 syndrome
Wildervanck sindrome di Wildervanck syndrome
Winchester sindrome di Winchester syndrome
Wolfram sindrome di Wolfram syndrome
Ascolta
Arnold-Chiari sindrome di Arnold-Chiari syndrome
Microcefalia isolata o sindromica Isolated or syndromic microcephaly
Agenesia cerebellare Cerebellar agenesis
Joubert sindrome di Joubert syndrome
Lissencefalia isolata o sindromica Isolated or syndromic lissencephaly
Oloprosencefalia isolata o sindromica Isolated or syndromic holoprosencephaly
Andermann sindrome di Andermann syndrome
Dandy-Walker sindrome di Dandy-Walker syndrome
Aase-Smith sindrome di Aase-Smith syndrome
Neuroacantocitosi Neuroacanthocytosis
Sindrome acrocallosa Acrocallosal syndrome
Walker-Warburg sindrome di Walker-Warburg syndrome
Ben Ari-Shuper-Mimouni sindrome di Ben Ari-Shuper-Mimouni syndrome
Bonnemann-Meinecke sindrome di Bonnemann-Meinecke syndrome
Displasia cerebro-facio-toracica Cerebrofaciothoracic dysplasia
Sindrome idroletale Hydrolethal syndrome
TorielloC arey sindrome di TorielloC arey syndrome
Gerstmann sindrome di Gerstmann syndrome
Lenz sindrome di Lenz syndrome
Sindrome anoftalmia plus Anophthalmia plus syndrome
Foix-Chavany-Marie sindrome di Foix-Chavany-Marie syndrome
Axenfeld-Rieger anomalia di Axenfeld-Rieger anomaly of
Axenfeld-Rieger sindrome di Axenfeld-Rieger syndrome
Peters anomalia di Peters anomaly of
Aniridia Aniridia
Coloboma congenito corioretinico Congenital chorioretinal coloboma
Coloboma congenito dell’iride Congenital coloboma of the iris
Coloboma congenito del disco ottico Congenital coloboma of the optic disc
Morning glory anomalia di Morning glory anomaly of
Persistenza della membrana pupillare Persistence of the pupillary membrane
Norrie malattia di Norrie's disease
Vogt-Koyanagi-Harada sindrome di Vogt-Koyanagi-Harada syndrome
Displasia setto-ottica Septo-optic dysplasia
Fraser sindrome di Fraser syndrome
Weill-Marchesani sindrome di Weill-Marchesani syndrome
Aicardi sindrome di Aicardi syndrome
Baraitser-Winter sindrome di Baraitser-Winter syndrome
Nance-Horan sindrome di Nance-Horan syndrome
Sindrome cerebrooculo-nasale Cerebrooculonasal syndrome
Sindrome CODAS CODAS syndrome
Acrocefalosindattilia Acrocephalosyndactyly
Apert sindrome di Open syndrome
C sindrome C syndrome
Goodman sindrome di Goodman syndrome
Hallerman-Streiff sindrome di Hallerman-Streiff syndrome
Pierre-Robin sindrome di Pierre-Robin syndrome
Treacher-Collins sindrome di Treacher-Collins syndrome
Antley-Bixler sindrome di Antley-Bixler syndrome
Baller-Gerold sindrome di Baller-Gerold syndrome
Carpenter sindrome di Carpenter syndrome
Pfeiffer sindrome di Pfeiffer syndrome
Summitt sindrome di Summitt syndrome
Jackson-Weiss sindrome di Jackson-Weiss syndrome
Nager sindrome di Nager syndrome
Cranio-fronto-nasale sindrome Craniofrontonasal syndrome
Craniosinostosi primaria Primary craniosynostosis
Crouzon malattia di Crouzon's disease
Disostosi cleidocranica Cleidocranial dysostosis
Disostosi mandibolofacciale Mandibulofacial dysostosis
Disostosi maxillofacciale Maxillofacial dysostosis
Displasia frontofacionasale Frontofaceonasal dysplasia
Displasia mandibolo-acrale Mandibulacral dysplasia
Displasia maxillonasale Maxillonasal dysplasia
Palatoschisi isolata o sindromica Isolated or syndromic cleft palate
Mohr malattia di Mohr's disease
Moebius sindrome di Moebius syndrome
Oculofaciocardiodentale sindrome Oculofaciocardiodental syndrome
Oro-facio-digitale sindrome di tipo 1 Oro-facio-digitalis syndrome type 1
Schinzel-Giedion sindrome di Schinzel-Giedion syndrome
Goldenhar sindrome di Goldenhar syndrome
Sindrome cefalopolisindattilia di Greig Greig's cephalopolysyndactyly syndrome
Sindrome oto-palato-digitale Oto-palato-digital syndrome
Focomelia Phocomelia
Deformità di Sprengel Sprengel deformity
Camptodattilia familiare Familial camptodactyly
Poland sindrome di Poland syndrome
Sindrome femoro-facciale Femoral facial syndrome
Sindromi con artrogriposi multiple congenite Syndromes with congenital arthrogryposis multiplex
Roberts sindrome di Roberts syndrome
Sindrome trisma pseudocamptodattilia Trismus pseudocamptodactyly syndrome
Freeman-Sheldon sindrome di Freeman-Sheldon syndrome
Sequenza da ipocinesia fetale Sequence from fetal hypokinesia
Sindrome da pterigi multipli Multiple pterygia syndrome
Sindrome RAPADILINO RAPADILINO syndrome
Sequenza sirenomelica Sirenomela sequence
Adams-Oliver sindrome di Adams-Oliver syndrome
Sindrome trombocitopenica con aplasia del radio Thrombocytopenic syndrome with radial aplasia
Cuore criss-cross Criss cross heart
Ebstein anomalia di Ebstein anomaly of
Sindrome del cuore sinistro ipoplasico Hypoplastic left heart syndrome
Blue rubber bleb nevus Blue rubber bleb nevus
Ivemark sindrome di Ivemark syndrome
Klippel-Trenaunay sindrome di Klippel-Trenaunay syndrome
Aneurisma della vena di Galeno Aneurysm of the vein of Galen
Malformazione arterovenosa cerebrale Cerebral arteriovenous malformation
Malformazione cavernosa cerebrale ereditaria Hereditary cerebral cavernous malformation
Malformazione cranica del seno durale Cranial malformation of the dural sinus
Sindrome CLOVE CLOVE syndrome
Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM) Capillary malformation arteriovenous malformation syndrome (MAVM)
Sindrome metamerica arterovenosa cerebrofacciale Cerebrofacial arteriovenous metameric syndrome
Klippel-Feil sindrome di Klippel-Feil syndrome
Gastroschisi Gastroschisis
Sindrome Prune Belly Prune Belly Syndrome
Onfalocele Omphalocele
Pentalogia di Cantrell Cantrell pentalogy
Malformazione ano-rettale in forma isolata o sindromica Anorectal malformation in isolated or syndromic form
Hirschsprung malattia di Hirschsprung's disease
Goldberg-Shprintzen sindrome di Goldberg-Shprintzen syndrome
Atresia biliare Biliary atresia
Caroli malattia di Caroli's disease
Malattia del fegato policistico Polycystic liver disease
Atresia ileale Ileal atresia
Atresia colica Colic atresia
Atresia intestinale multipla Multiple intestinal atresia
Cloaca persistente Persistent cloaca
Duplicazioni del tubo digerente Duplications of the digestive tract
Complesso OEIS OEIS complex
Atresia esofagea e/o fistola – tracheoesofagea Esophageal atresia and/or tracheoesophageal fistula
Atresia del digiuno Fasting atresia
Atresia o stenosi duodenale Atresia or duodenal stenosis
Ipoplasia/Aplasia della muscolatura della parete gastrica Hypoplasia/Aplasia of the muscles of the gastric wall
Microgastria Microgastria
Sindrome dell’intestino corto congenito Congenital short bowel syndrome
Rene con midollare a spugna Kidney with medullary sponge
Malattia renale cistica genetica Genetic cystic kidney disease
Senior-Loken sindrome di Senior-Loken syndrome
Rene policistico autosomico recessivo Autosomal recessive polycystic kidney disease
Meckel sindrome di Meckel syndrome
Estrofia vescicale Bladder exstrophy
Gonadico e/o fenotipo Gonadal and/or phenotype
Disgenesia gonadica gonadal dysgenesis
Perrault sindrome di Perrault syndrome
Sindrome da insensibilità completa agli androgeni Complete androgen insensitivity syndrome
Sindrome da insensibilità parziale agli androgeni Partial androgen insensitivity syndrome
Pseudoermafroditismi Pseudohermaphroditism
Denys Drash sindrome di Denys Drash Syndrome
Ermafroditismo vero True hermaphroditism
cariotipo/sviluppo gonadico e/o fenotipo karyotype/gonadal development and/or phenotype
Frasier sindrome di Frasier syndrome
Sindrome SERKAL SERKAL syndrome
Afallia Afallia
Epispadia Epispadias
Megalouretra Megalourethra
Mayer Rokitansky Kuster Hauser sindrome di Mayer Rokitansky Kuster Hauser syndrome
Acrodisostosi Acrodysostosis
Sindrome da regressione caudale Caudal regression syndrome
Acondrogenesi Achondrogenesis
Acondroplasia Achondroplasia
Condrodisplasia letale Lethal chondrodysplasia
Condrodisplasia metafisaria Metaphyseal chondrodysplasia
Condrodisplasia tipo Blomstrand Chondrodysplasia Blomstrand type
Condrodistrofia congenita non tipizzata Untyped congenital chondrodystrophy
Desbuquois sindrome di Desbuquois syndrome
Displasia acromicrica Achromic dysplasia
Displasia epifisaria emimelica Hemimelic epiphyseal dysplasia
Displasia metatropica Metatropic dysplasia
Displasia otospondilomegaepifisaria Otospondylomegaepiphyseal dysplasia
Displasia pseudoreumatoide progressiva Progressive pseudorheumatoid dysplasia
Distrofia toracica asfissiante Asphyxiating thoracic dystrophy
Encondromatosi multipla Multiple enchondromatosis
Esostosi multipla Multiple exostosis
Ipocondroplasia Hypochondroplasia
Keutel sindrome di Keutel syndrome
Kniest displasia Kniest dysplasia
Larsen sindrome di Larsen syndrome
Schwartz-J ampel sindrome di Schwartz-J ampel syndrome
Sindrome camptomelica Camptomelic syndrome
Atelosteogenesi Atelosteogenesis
Buschke-Ollendorff sindrome di Buschke-Ollendorff syndrome
Conradi Hunermann Happle sindrome di Conradi Hunermann Happle syndrome
Discondrosteosi dyschondrosteosis
Displasia craniometafisaria Craniometaphyseal dysplasia
Displasia diastrofica e pseudodiastrofica Diastrophic and pseudodiastrophic dysplasia
Displasia fibrosa Fibrous dysplasia
Displasia gnatodiafisaria Gnathodiaphyseal dysplasia
Displasia spondiloepifisaria Spondyloepiphyseal dysplasia
Displasia spondilometafisaria Spondylometaphyseal dysplasia
Ellis-van Creveld sindrome di Ellis-van Creveld syndrome
Engelmann malattia di Engelmann's disease
Fairbank malattia di Fairbank's disease
Frank-Ter Haar sindrome di Frank-Ter Haar Syndrome
Hajdu Cheney sindrome di Hajdu Cheney syndrome
Mc Cune Albright sindrome di McCune Albright Syndrome
Osteodistrofia congenita non tipizzata Untyped congenital osteodystrophy
Osteogenesi imperfetta Osteogenesis imperfecta
Osteopetrosi Osteopetrosis
Picnodisostosi Pycnodysostosis
Sindrome DOOR DOOR syndrome
Sindrome osteoporosi-pseudoganglioma Osteoporosis-pseudoganglioma syndrome
Maffucci sindrome di Maffucci syndrome
Displasia spondiloepifisaria congenita Congenital spondyloepiphyseal dysplasia
Dyggve Melchior Clausen (DMC ) sindrome di Dyggve Melchior Clausen (DMC ) syndrome
Jarcho-Levin sindrome di Jarcho-Levin syndrome
Sindromi da aneuploidia cromosomica Chromosomal aneuploidy syndromes
Turner sindrome di Turner syndrome
Pallister-Killian sindrome di Pallister-Killian syndrome
Sindrome del Cri Du Chat Cri Du Chat Syndrome
WAGR sindrome di WAGR syndrome
Williams sindrome di Williams syndrome
Wolf-Hirschhorn sindrome di Wolf-Hirschhorn syndrome
Sindrome del cromosoma X fragile Fragile X chromosome syndrome
Loeys-Dietz sindrome di Loeys-Dietz syndrome
Shprintzen-Goldberg sindrome di Shprintzen-Goldberg syndrome
Marfan sindrome di Marfan syndrome
Ehlers Danlos sindrome di Ehlers Danlos Syndrome
Stickler sindrome di Stickler syndrome
Nanismo osteodisplastico microcefalico primitivo (MOPD) Primary microcephalic osteodysplastic dwarfism (MOPD)
Aarskog sindrome di Aarskog syndrome
Dubowitz sindrome di Dubowitz syndrome
Robinow sindrome di Robinow syndrome
Russell Silver sindrome di Russell Silver Syndrome
Seckel sindrome di Seckel syndrome
SHORT sindrome SHORT syndrome
Emiipertrofia congenita Congenital hemihypertrophy
Beckwith-Wiedemann sindrome di Beckwith-Wiedemann syndrome
Sotos sindrome di Sotos syndrome
Weaver sindrome di Weaver syndrome
Simpson-Golabi-Behmel sindrome di Simpson-Golabi-Behmel syndrome
Marshall-Smith sindrome di Marshall-Smith syndrome
sindromi note) known syndromes)
Alagille sindrome di Alagille syndrome
Alstrom sindrome di Alstrom syndrome
Amartomatosi multiple Multiple hamartomatosis
Bannayan-Zonana sindrome di Bannayan-Zonana syndrome
BirtHoggDubè sindrome di BirtHoggDub's syndrome
Complesso di Von Meyenburg Von Meyenburg complex
Cowden malattia di Cowden's disease
Sclerosi tuberosa Tuberous sclerosis
Peutz-J eghers sindrome di Peutz-J eghers syndrome
Sturge-Weber sindrome di Sturge-Weber syndrome
Von Hippel-Lindau sindrome di Von Hippel-Lindau syndrome
Sindrome proteus Proteus syndrome
Angelman sindrome di Angelman syndrome
Associazione VACTERL/VATER VACTERL/VATER association
Bardet-Biedl sindrome di Bardet-Biedl syndrome
Bloom sindrome di Bloom syndrome
Borjeson-Forssman-Lehmann sindrome di Borjeson-Forssman-Lehmann syndrome
Char sindrome di Char syndrome
Coffin-Lowry sindrome di Coffin-Lowry syndrome
Coffin-Siris sindrome di Coffin-Siris syndrome
Cohen sindrome di Cohen syndrome
Cornelia De Lange sindrome di Cornelia De Lange Syndrome
Costello sindrome di Costello syndrome
Noonan sindrome di Noonan syndrome
Sindrome cardiofaciocutanea Cardiofaciocutaneous syndrome
Leopard sindrome Leopard syndrome
De Sanctis Cacchione malattia di De Sanctis Cacchione disease of
Displasia oculo-digito-dentale Oculo-digital-dental dysplasia
Filippi sindrome di Philippi syndrome
Sindrome FG FG syndrome
Fine-Lubinsky sindrome di Fine-Lubinsky syndrome
Fryns sindrome di Fryns syndrome
Hermansky-Pudlak sindrome di Hermansky-Pudlak syndrome
Holt-Oram sindrome di Holt-Oram syndrome
LevyHollister sindrome di LevyHollister syndrome
Lowe sindrome di Lowe syndrome
Mainzer-Saldino sindrome di Mainzer-Saldino syndrome
Marshall sindrome di Marshall syndrome
Opitz sindrome di Opitz syndrome
Pallister-Hall sindrome di Pallister-Hall syndrome
Pallister-W sindrome di Pallister-W syndrome
Parry-Romberg sindrome di Parry-Romberg syndrome
Prader-Willi sindrome di Prader-Willi syndrome
Rubinstein-Taybi sindrome di Rubinstein-Taybi syndrome
Sindrome branchio-oculo-facciale Branchio-oculo-facial syndrome
Sindrome branchio-oto-renale Branchio-oto-renal syndrome
Sindrome cardiofacciale di Cayler Cayler's cardiofacial syndrome
Sindrome cerebrocostomandibolare Cerebrocostomandibular syndrome
Sindrome cerebrooculo-facio-scheletrica Cerebrooculofacioskeletal syndrome
CHARGE associazione CHARGE association
Sindrome Kabuki Kabuki syndrome
Sindrome megalocornea-ritardo mentale Megalocornea-mental retardation syndrome
Sindrome nail-patella Nail-patella syndrome
Sindrome oculo-cerebro-cutanea Oculocerebrocutaneous syndrome
Sindromi progeroidi Progeroid syndromes
Hutchinson-Gilford sindrome di Hutchinson-Gilford syndrome
Poichiloderma congenito Congenital poikiloderma
Wiedemann-Rautenstrauch sindrome di Wiedemann-Rautenstrauch syndrome
Werner sindrome di Werner syndrome
Cockayne sindrome di Cockayne syndrome
Sindrome tricorino-falangea Trichorinophalangeal syndrome
Smith-Magenis sindrome di Smith-Magenis syndrome
Townes-Brocks sindrome di Townes-Brocks syndrome
Sindromi di Waardenburg Waardenburg syndromes
Waandenburg tipo 1 sindrome di Waandenburg type 1 syndrome
Waandenburg tipo 2 sindrome di Waandenburg type 2 syndrome
Waandenburg tipo 3 sindrome di Waandenburg type 3 syndrome
Wildervanck sindrome di Wildervanck syndrome
Winchester sindrome di Winchester syndrome
Wolfram sindrome di Wolfram syndrome