{"orpha":2879,"name":"Phocomelia, Schinzel type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Al Awadi-Raas-Rothschild syndrome","Aplasia/hypoplasia of limbs and pelvis","Congenital absence of ulna and fibula","Severe limb deficit"],"definition":"A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2879/","orphanet_url":"https://www.orpha.net/en/disease/detail/2879","names":{"fr":{"name":"Phocomélie type Schinzel","synonyms":["Absence congénitale de cubitus et de péroné","Aplasie/hypoplasie des membres et du pelvis","Déficit sévère des membres","Syndrome d'Al Awadi-Raas-Rothschild"],"definition":"La phocomélie de type Schinzel, aussi appelée syndrome d'aplasie/hypoplasie des membres et du pelvis, est caractérisée par des malformations squelettiques affectant les os pelviens, le fémur, le péroné et le cubitus. Le phénotype étant similaire à celui du syndrome malformatif décrit par Al-Awadi et Raas-Rothschild, on pense qu'il s'agit d'une seule entité."},"de":{"name":"Phokomelie Typ Schinzel","synonyms":["Al-Awadi/Raas-Rothschild-Syndrom","Apoplasie/Hypoplasie von Gliedmaßen und Becken","Kongenitales Fehlen von Ulna und Fibula","Schwerer Gliedmaßendefekt"],"definition":"Ein seltenes Fehlbildungssyndrom mit Verkürzung der Gliedmaßen. Es ist gekennzeichnet durch Skelettfehlbildungen, zu denen fehlende oder hypoplastische Beckenknochen (einschließlich Sakralagenesie oder -hypoplasie), interkalare Gliedmaßendefekte (Phokomelie, möglicherweise in Kombination mit Polydaktylie, Oligodaktylie oder Ektrodaktylie) und Schädelfehlbildungen (häufig ein Defekt des Hinterhauptbeins mit oder ohne Meningozele) gehören. Weitere Merkmale können Thoraxdystrophie, Gesichtsdysmorphien (dysplastische und große Ohren und ein hoher und schmaler Gaumen) und Fehlbildungen der Genitalien (Aplasie der Müllerschen Gänge, Agenesie der Gebärmutter und Vagina, Mikropenis mit Kryptorchismus) sein. Wachstum und geistige Entwicklung sind nicht beeinträchtigt."},"es":{"name":"Focomelia tipo Schinzel","synonyms":["Aplasia/hipoplasia de extremidades y pelvis","Ausencia congénita de cúbito y peroné","Deficiencia grave de las extremidades","Síndrome de Al-Awadi-Raas-Rothschild"],"definition":"Es un síndrome genético poco frecuente con defectos de reducción de las extremidades caracterizado por malformaciones esqueléticas que comprenden huesos pélvicos ausentes o hipoplásicos (incluyendo agenesia o hipoplasia sacra), deficiencias intercalares de las extremidades (focomelia potencialmente combinada con polidactilia, oligodactilia o ectrodactilia) y defectos del cráneo (frecuentemente un defecto del hueso occipital con o sin meningocele). Otras características adicionales incluyen la distrofia torácica, los rasgos faciales dismórficos (orejas displásicas y grandes, y paladar ojival) y las malformaciones genitales (aplasia mulleriana, agenesia del útero y la vagina, micropene con criptorquidia). El crecimiento y el desarrollo intelectual no se ven afectados."},"it":{"name":"Focomelia, tipo Schinzel","synonyms":["Aplasia/ipoplasia degli arti e del bacino","Assenza congenita dell'ulna e del perone","Deficit grave degli arti","Sindrome di Al Awadi-Raas-Rothschild"]},"nl":{"name":"Focomelie, Schinzel-type","synonyms":["Aplasie/hypoplasie van ledematen en bekken","Congenitale afwezigheid van ulna en fibula","Ernstig ledemaatdefect","Syndroom van Al Awadi-Raas-Rothschild"],"definition":"Een zeldzaam genetisch syndroom met lengtedefecten van ledematen, gekenmerkt door skeletmalformaties bestaande uit afwezige of hypoplastische botten van bekken(waaronder sacrale agenesie of hypoplasie), intercalaire ledemaatdeficiëntie (focomelie mogelijk gecombineerd met polydactylie, oligodactylie of ectrodactylie), en defecten van schedel (vaak een defect van achterhoofdsbeen met of zonder meningocele). Mogelijke bijkomende kenmerken zijn onder meer thoracale dystrofie, dysmorfe gelaatskenmerken (dysplastische en grote oren, en een hoog en smal gehemelte), en genitale malformaties (Mülleriaanse aplasie, agenesie van uterus en vagina, micropenis met cryptorchisme). Groei en mentale ontwikkeling worden niet beïnvloed."},"pt":{"name":"Focomelia, tipo Schinzel","synonyms":["Aplasia/hipoplasia dos membros e pélvis","Ausência de cúbito e fíbula congénita","Défice grave dos membros","Síndrome Al-Awadi-Raas-Rothschild"],"definition":"Síndrome genética rara com defeitos de redução dos membros caracterizada por malformações esqueléticas que englobam ossos pélvicos ausentes ou hipoplásicos (incluindo agenesia sacral ou hipoplasia), deficiências intercalares dos membros (focomelia potencialmente combinada com polidactilia, oligodactilia ou ectrodactilia) e defeitos no crânio (frequentemente um defeito do osso occipital com ou sem meningocelo). As características adicionais podem incluir distrofia torácica, características faciais dismórficas (orelhas grandes e displásicas e palato alto e estreito) e malformações genitais (aplasia mulleriana, agenesia do útero e da vagina, micropénis com criptorquidia). O crescimento e o desenvolvimento intelectual não são afetados."},"pl":{"name":"Fokomelia, typ Schinzela","synonyms":["Aplazja/hipoplazja kończyn i miednicy","Ciężki ubytek kończyn","Wrodzony brak kości łokciowej i strzałkowej","Zespół Al Awadi, Raasa i Rothschilda"],"definition":"Rzadki zespół genetyczny z wadami redukcyjnymi kończyn, charakteryzujący się wadami rozwojowymi szkieletu obejmującymi brak lub niedorozwój kości miednicy (w tym agenezję lub hipoplazję kości krzyżowej), ubytkami interkalarnymi kończyn (fokomelia potencjalnie połączona z polidaktylią, oligodaktylią lub ektrodaktylią) oraz wadami czaszki (często występuje wada kości potylicznej bez lub z przepukliną oponową). Dodatkowe cechy mogą obejmować dystrofię klatki piersiowej, dysmorficzne rysy twarzy (dysplastyczne i duże uszy oraz wysokie i wąskie podniebienie) oraz wady rozwojowe narządów płciowych (aplazja Mullera, agenezja macicy i pochwy, mikropenis z wnętrostwem). Wzrost i rozwój umysłowy są prawidłowe."},"cs":{"name":"Fokomelie, Schinzelův typ","synonyms":["Al Awadiové-Raas-Rothschildové syndrom","Vrozená absence ulny a fibuly","Aplázie/hypoplázie končetin a pánve","Těžký defekt končetin","Al Awadi-Raas-Rothschildové syndrom"]},"uk":{"name":"Фокомелія, вид Шинцеля","synonyms":["Синдром Аль-Аваді-Раас-Ротшильда","Аплазія/гіпоплазія кінцівок і тазу","Вроджена відсутність ліктьової та малогомілкової кісток","Виражений дефіцит кінцівок"],"definition":"A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected."},"zh":{"name":"海豹肢畸形，Schinzel型","synonyms":["四肢和骨盆发育不全"]},"tr":{"name":"Phocomelia, Schinzel türü","synonyms":["Ağır ekstremite eksikliği","Al Awadi-Raas-Rothschild sendromu","Ulna ve fibulanın doğumsal yokluğu","Ekstremite ve pelvis aplazisi / hipoplazisi"]}},"xrefs":[{"source":"OMIM","code":"276820","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1732271544"},{"source":"MONDO","code":"0010164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535612","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848651","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9212","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"WNT7A","name":"Wnt family member 7A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23922166[PMID]_23266637[PMID]","hgnc":"12786","ensembl":"ENSG00000154764","omim":"601570","loci":["3p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003982","label":"Absent ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009103","label":"Aplasia/Hypoplasia involving the pelvis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008517","label":"Aplasia/Hypoplasia of the sacrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002990","label":"Fibular aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009380","label":"Finger aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001849","label":"Foot oligodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003041","label":"Humeroradial synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}