{"orpha":2141,"name":"Diaphragmatic defect-limb deficiency-skull defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Froster-Huch syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2141/","orphanet_url":"https://www.orpha.net/en/disease/detail/2141","names":{"fr":{"name":"Syndrome de hernie diaphragmatique-anomalies des membres","synonyms":["Syndrome de Froster-Huch"],"definition":"Le syndrome d'hernie diaphragmatique-anomalies des membres associe une hernie diaphragmatique classique (type Bochdalek), une hypoplasie pulmonaire sévère, et des malformations variables."},"de":{"name":"Zwerchfelldefekt-Extremitätenfehlbildung-Schädelanomalie-Syndrom","synonyms":["Froster-Huch-Syndrom"],"definition":"Eine seltene angeborene Fehlbildung, die durch Zwerchfellhernie, Lungenhypoplasie, Ossifikationsdefekt des Schädels, schwere Gliedmaßenhypoplasie und Omphalozele gekennzeichnet ist. Weitere klinische Merkmale können Syndaktylie, Klinodaktylie, Extraspleen, Fehlen des Femurs oder des Beckenknochens, partielle Darmfehlrotation und Hodenatrophie sein."},"es":{"name":"Síndrome de defecto diafragmático-anomalía de las extremidades-defecto craneal","synonyms":["Síndrome de Froster-Huch"],"definition":"Es una malformación congénita poco frecuente caracterizada por hernia diafragmática, hipoplasia pulmonar, defecto de osificación del cráneo, hipoplasia grave de las extremidades y onfalocele. Otras posibles características clínicas son sindactilia, clinodactilia, bazo adicional, ausencia del fémur o del hueso pélvico, malrotación intestinal parcial y atrofia testicular."},"it":{"name":"Ernia diaframmatica - anomalie degli arti","synonyms":["Sindrome di Froster-Huch"]},"nl":{"name":"Diafragmadefect - ledemaatdeficiëntie - schedeldefect-syndroom","synonyms":["Syndroom van Froster-Huch"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door hernia diafragmatica (middenrifbreuk), hypoplasie van long, defect van ossificatie van schedel, en ernstige hypoplasie van ledematen. Mogelijke andere klinische kenmerken zijn onder meer syndactylie, clinodactylie, extra milt, afwezigheid van femur of botten van bekken, partiële intestinale malrotatie, omfalocele en atrofie van testis."},"pt":{"name":"Síndrome de anomalia diafragmática-anomalia dos membros-anomalia craniana","synonyms":["Síndrome Froster-Huch"],"definition":"Malformação congénita rara caracterizada por hérnia diafragmática, hipoplasia pulmonar, defeito de ossificação do crânio, hipoplasia grave dos membros e onfalocelo. Outras características clínicas podem incluir sindactilia, clinodactilia, baço acessório, ausência do fémur ou da pélvis, malrotação intestinal parcial e atrofia testicular."},"pl":{"name":"Wada przepony - skrócenie kończyny - wada czaszki","synonyms":["Zespół Frostera i Hucha"],"definition":"Rzadka wrodzona wada rozwojowa charakteryzująca się przepukliną przeponową, hipoplazją płuc, nieprawidłowym kostnieniem czaszki, ciężkim niedorozwojem kończyn i przepukliną pępowinową. Inne cechy kliniczne mogą obejmować syndaktylię, klinodaktylię, dodatkową śledzionę, brak kości udowej lub miednicy, częściową nieprawidłową rotację jelit i zanik jąder."},"cs":{"name":"Syndrom zahrnující defekt bránice, chybění končetiny a defekt lebky","synonyms":["Frosterův-Huchův syndrom","Froster-Huchův syndrom"]},"uk":{"name":"Синдром діафрагмального дефекту-дефекту кінцівок- дефекту черепа","synonyms":["Синдром Фростера-Хача"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinicial features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy."},"zh":{"name":"膈肌缺损-肢体残缺-颅骨缺损综合征","synonyms":["Froster-Huch综合征"]},"tr":{"name":"Diyafragmatik defekt-ekstremite eksikliği-kafatası defekt sendromu","synonyms":["Froster-Huch sendromu"]}},"xrefs":[{"source":"OMIM","code":"601163","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303589","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2397","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"8779324[PMID]_19318925[PMID]_23448910[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8779324[PMID]_19318925[PMID]_23448910[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000782","label":"Abnormality of the scapula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006492","label":"Aplasia/Hypoplasia of the fibula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006507","label":"Aplasia/hypoplasia of the humerus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Occasional (29-5%)","criteria":null}]}}