{"orpha":1272,"name":"Aymé-Gripp syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brachycephaly-deafness-cataract-intellectual disability syndrome","Brachycephaly-hearing loss-cataract-intellectual disability syndrome","Fine-Lubinsky syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1272/","orphanet_url":"https://www.orpha.net/en/disease/detail/1272","names":{"fr":{"name":"Syndrome Aymé-Gripp","synonyms":["Syndrome de Fine-Lubinsky","Syndrome de brachycéphalie-surdité-cataracte-déficience intellectuelle"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, d'origine génétique, caractérisé par une cataracte congénitale, une surdité neurosensorielle, un retard de développement avec une déficience intellectuelle de degré variable, des convulsions, une petite taille, une brachycéphalie et une dysmorphie faciale (visage aplati, ptosis, pointe nasale courte, philtrum long, oreilles orientées vers l'arrière et d'implantation basse et petite bouche). Parmi les autres manifestations rapportées figurent des anomalies squelettiques, une dystrophie unguéale, une hypoplasie des glandes mammaires et un trouble du spectre de l'autisme."},"de":{"name":"Aymé-Gripp-Syndrom","synonyms":["Brachyzephalie-Hörverlust-Katarakt-Intelligenzminderung-Syndrom","Brachyzephalie-Taubheit-Katarakt-Intelligenzminderung-Syndrom","Fine-Lubinsky-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch kongenitale Katarakt, sensorineurale Schwerhörigkeit, Entwicklungsverzögerung mit unterschiedlichem Grad an Intelligenzminderung, Krampfanfälle, Kleinwuchs, Brachyzephalie und Gesichtsdysmorphien (z. B. flaches Erscheinungsbild, Ptosis, kurze Nasenspitze, langes Philtrum, tief angesetzte und nach hinten gedrehte Ohren und kleiner Mund) gekennzeichnet ist. Weitere gemeldete Manifestationen sind Skelettanomalien, Nageldystrophie, Brustdrüsenhypoplasie und Autismus-Spektrum-Störung."},"es":{"name":"Síndrome de Aymé-Gripp","synonyms":["Síndrome de Fine-Lubinsky","Síndrome de braquicefalia-hipoacusia-catarata-discapacidad intelectual","Síndrome de braquicefalia-sordera-catarata-discapacidad intelectual"],"definition":"Es un síndrome dismórfico/ con anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por cataratas congénitas, pérdida auditiva neurosensorial, retraso del desarrollo con grados variables de discapacidad intelectual, crisis, talla baja, braquicefalia y rasgos faciales dismórficos (como aspecto facial aplanado, ptosis, punta nasal corta, filtrum largo, orejas de implantación baja con rotación posterior y boca pequeña). Otras manifestaciones descritas incluyen anomalías esqueléticas, distrofia ungueal, hipoplasia de las glándulas mamarias y trastornos del espectro autista."},"it":{"name":"Sindrome Aymé-Gripp","synonyms":["Sindrome di Fine-Lubinsky","Sindrome brachicefalia-sordità-cataratta-disabilità intellettiva","Brachicefalia - sordità - cataratta - ritardo mentale"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da cataratta congenita, sordità neurosensoriale, ritardo dello sviluppo con disabilità intellettiva di gravità variabile, crisi epilettiche, bassa statura, brachicefalia e dismorfismi facciali (viso appiattito, ptosi, punta del naso corta, filtro lungo, orecchie a basso impianto ruotate posteriormente e bocca piccola). I pazienti possono presentare anche anomalie scheletriche, distrofia ungueale, ipoplasia delle ghiandole mammarie e disturbi dello spettro autistico."},"nl":{"name":"Syndroom van Aymé-Gripp","synonyms":["Brachycefalie - doofheid - cataract - intellectuele achterstand-syndroom","Brachycefalie - gehoorverlies - cataract - intellectuele achterstand-syndroom","Syndroom van Fine-Lubinsky"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door congenitaal cataract, sensorineuraal gehoorverlies, ontwikkelingsachterstand met variabele gradaties van intellectuele achterstand, insulten, kleine gestalte, brachycefalie, en dysmorfe gelaatskenmerken (zoals plat gelaat, ptosis, korte neuspunt, lang filtrum, laagstaande en naar achteren gedraaide oren, en kleine mond). Bijkomend gerapporteerde manifestaties zijn skeletanomalieën, nageldystrofie, hypoplasie van borstklier, en autismespectrumstoornis."},"pt":{"name":"Síndrome Aymé-Gripp","synonyms":["Síndrome Fine-Lubinsky","Síndrome de braquicefalia-perda auditiva-catarata-perturbação do desenvolvimento intelectual","Síndrome de braquicefalia-surdez-catarata-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół Fine'a i Lubinsky'ego","synonyms":["Krótkogłowie - głuchota - zaćma - niepełnosprawność intelektualna"]},"cs":{"name":"Fineho-Lubinského syndrom","synonyms":["Syndrom zahrnující brachycefalii, hluchotu, kataraktu a mentální retardaci","Fine-Lubinského syndrom"]},"uk":{"name":"Синдром Еме-Гріппа","synonyms":["Синдром брахіцефалії-глухоти-катаракти-інтелектуальної недостатності","Синдром брахіцефалії-втрати слуху-катаракти-інтелектуальної недостатності","Синдром Файн-Любінського"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder."},"zh":{"name":"AymÚ-Gripp综合征","synonyms":["短头畸形-听力丧失-白内障-智力障碍综合征"]},"tr":{"name":"Aymé-Gripp sendromu","synonyms":["Fine-Lubinsky sendromu","Brakisefali-sağırlık-katarakt-zihinsel yetersizlik sendromu","Brakisefali-işitme kaybı-katarakt-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"601088","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011049","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537933","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795941","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"958","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":477668,"name":"OBSOLETE: AymÚ-Gripp syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"MAF","name":"MAF bZIP transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25865493[PMID]_8867660[PMID]_8834052[PMID]","hgnc":"6776","ensembl":"ENSG00000178573","omim":"177075","loci":["16q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"19396831[PMID]_19251507[PMID]_25865493[PMID]_28482824[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28482824[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-21","source":"19251507[PMID]_25865493[PMID]_19396831[PMID]_17935251[PMID]","terms":[{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011333","label":"Asymmetric crying face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002680","label":"J-shaped sella turcica","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012770","label":"Reduced arm span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005815","label":"Supernumerary ribs","frequency":"Occasional (29-5%)","criteria":null}]}}