{"orpha":137634,"name":"Overgrowth-macrocephaly-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137634/","orphanet_url":"https://www.orpha.net/en/disease/detail/137634","names":{"fr":{"name":"Syndrome de croissance excessive-macrocéphalie-dysmorphie faciale","definition":"Ce syndrome se caractérise par une grande taille, des troubles de l'apprentissage et une dysmorphie faciale."},"de":{"name":"Großwuchs-Makrozephalie-Gesichtsdysmorphie-Syndrom","synonyms":["Übermäßiges Wachstum, RNF135-abhängig"],"definition":"Ein seltenes Grosswuchssyndrom, das durch eine Hochwuchs, Lernschwierigkeiten und Gesichtsdysmorphien gekennzeichnet ist."},"es":{"name":"Síndrome de sobrecrecimiento-macrocefalia-dismorfia facial","definition":"Es un síndrome de sobrecrecimiento poco frecuente caracterizado por talla alta, trastornos del aprendizaje y dismorfia facial."},"it":{"name":"Iperaccrescimento - macrocefalia - dismorfismi facciali","synonyms":["Sindrome da iperaccrescimento associato a RNF135"]},"nl":{"name":"Overgroei - macrocefalie - faciale dysmorfie-syndroom","definition":"Een zeldzaam overgroeisyndroom, gekenmerkt door lange gestalte, leermoeilijkheden, en faciale dysmorfie."},"pt":{"name":"Síndrome de sobrecrescimento-macrocefalia-dismorfia facial","definition":"Esta síndrome é caracterizada por estatura alta, dificuldades de aprendizagem e dismorfismo facial."},"pl":{"name":"Przerost - makrocefalia - dysmorfia twarzy","synonyms":["Zespół przerostu związany z RNF135"]},"cs":{"name":"Syndrom zahrnující nadměrný vzrůst, makrocefalii a faciální dysmorfismus","synonyms":["RNF135-vázaný syndrom s makrosomií"]},"uk":{"name":"Синдром надмірного росту-макроцефалії-лицевого дизморфізму","definition":"A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism."},"zh":{"name":"生长过度-大头畸形-面部畸形综合征","definition":"生长过度-巨头畸形-面部畸形综合征的特征是身材高大、学习困难和面部畸形。"},"tr":{"name":"Aşırı büyüme-makrosefali-yüz dismorfizm sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C4302813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":93460,"name":"Overgrowth syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"RNF135","name":"ring finger protein 135","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17632510[PMID]","hgnc":"21158","ensembl":"ENSG00000181481","omim":"611358","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"17632510[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17632510[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-09-23","source":"17632510[PMID]_26368817[PMID]_19291764[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008058","label":"Aplasia/Hypoplasia of the optic nerve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000267","label":"Cranial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012741","label":"Unilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null}]}}