{"orpha":314555,"name":"Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hamamy syndrome"],"definition":"A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314555/","orphanet_url":"https://www.orpha.net/en/disease/detail/314555","names":{"fr":{"name":"Syndrome de dysmorphie faciale-anomalies oculaires-ostéopénie-déficience intellectuelle-anomalies dentaires","synonyms":["Syndrome de Hamamy"],"definition":"Anomalie rare du développement embryonnaire d'origine génétique caractérisée par une dysmorphie craniofaciale (brachycéphalie, front proéminent, sourcils clairsemés sur les côtés, hypertélorisme sévère, fentes palpébrales inclinées vers le haut, épicanthus, oreilles décollées, large pont nasal, nez pointu, philtrum plat, narines antéversées, grande bouche, vermillon supérieur fin, palais ogival et micrognathie légère) associée à une ostéopénie entraînant des fractures récurrentes des os longs, une myopie sévère, une surdité neurosensorielle ou mixte légère à modérée, une hypoplasie de l'émail, des épaules tombantes et une déficience intellectuelle légère."},"de":{"name":"Gesichtsdysmorphie-okuläre Anomalien-Osteopenie-Intelligenzminderung-Zahnanomalien-Syndrom","synonyms":["Hamamy-Syndrom"],"definition":"Eine genetisch bedingte Entwicklungsstörung während der Embryogenese, die durch kraniofaziale Dysmorphien (u. a. Brachyzephalie, prominente Stirn, spärliche seitliche Augenbrauen, schwerer Hypertelorismus, aufsteigende Lidachsen, Epikanthusfalten, abstehende Ohren, breiter Nasenrücken, spitze Nasenspitze, flaches Philtrum , antevertierte Nasenlöcher, großer Mund, dünner oberer Rand des Lippenrots, stark gewölbter Gaumen und leichte Mikrognathie) in Verbindung mit Osteopenie, die zu wiederholten Frakturen der langen Röhrenknochen führt, schwerer Myopie, leichter bis mittelschwerer sensorineuraler oder kombinierter Schwerhörigkeit, Schmelzhypoplasie, abfallenden Schultern und leichter Intelligenzminderung."},"es":{"name":"Síndrome de dismorfia facial-anomalías oculares-osteopenia-discapacidad intelectual-anomalías dentarias","synonyms":["Síndrome de Hamamy"],"definition":"Es un trastorno por defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por dismorfia craneofacial (que incluye braquicefalia, frente prominente, cejas laterales escasas, hipertelorismo grave, fisuras palpebrales ascendentes, pliegues epicánticos, orejas prominentes, puente nasal ancho, punta nasal puntiaguda, surco nasolabial plano, fosas nasales antevertidas, boca grande, borde bermellón superior delgado, paladar ojival y leve micrognatia) asociada a osteopenia que conduce a fracturas recurrentes de huesos largos, alta miopía, hipoacusia neurosensorial o mixta de leve a moderada, hipoplasia del esmalte, hombros caídos y discapacidad intelectual leve."},"it":{"name":"Sindrome da dismorfismi facciali-miopia grave-osteopenia-disabilità intellettiva-anomalie dei denti","synonyms":["Sindrome di Hamamy"],"definition":"La sindrome che associa la displasia craniofacciale e l'osteopenia è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da dismorfismi craniofacciali (brachicefalia, fronte prominente, sopracciglia rade nella porzione laterale, ipertelorismo marcato, rime palpebrali oblique verso l'alto, epicanto, orecchie prominenti, sella nasale ampia, naso appuntito, filtro piatto, narici anteverse, bocca grande, assottigliamento della porzione mucosa del labbro superiore, palato ogivale e micrognazia), associati ad osteopenia, con conseguenti fratture ripetute delle ossa lunghe, miopia grave, sordità neurosensoriale o di tipo misto lieve-moderata, ipoplasia dello smalto, spalle cascanti e disabilità intellettiva lieve."},"nl":{"name":"Faciale dysmorfie - oculaire anomalieën - osteopenie - intellectuele achterstand - dentale anomalieën-syndroom","synonyms":["Syndroom van Hamamy"],"definition":"Een zeldzaam, genetisch ontwikkelingsdefect tijdens embryogenese, gekenmerkt door craniofaciale dysmorfie (met onder meer brachycefalie, prominent voorhoofd, schaarse laterale wenkbrauwen, ernstig hypertelorisme, opwaarts hellende ooglidspleten, epicanthusplooien, uitstekende oren, brede neusbrug, puntige neus, plat filtrum, anteversie van neusgaten, grote mond, dunne grens van bovenste vermiljoen, hoog gebogen gehemelte, en milde micrognathie), geassocieerd met osteopenie die leidt tot herhaaldelijke fracturen van pijpbeenderen, ernstige myopie, mild tot matig sensorineuraal of gemengd gehoorverlies, hypoplasie van tandglazuur, afhangende schouders en milde intellectuele achterstand."},"pt":{"name":"Síndrome de dismorfia facial-anomalias oculares-osteopenia-perturbação do desenvolvimento intelectual-anomalias dentárias","synonyms":["Síndrome Hamamy"]},"pl":{"name":"Zespół dysplazja twarzowo-czaszkowa-osteopenia","synonyms":["Zespół Hamamy","Zespół dysmorfii twarzy-ciężkiej krótkowzroczności-osteopenii-niepełnosprawności intelektualnej-wad zębów","Zespół dysmorfii twarzy-wad oczu-osteopenii-niepełnosprawności intelektualnej-wad zębów"],"definition":"*Zespół dysplazja twarzowo-czaszkowa-osteopenia jest rzadką, genetycznie uwarunkowaną wadą rozwojową, powstałą w przebiegu embriogenezy, która charakteryzuje się dysmorfią twarzoczaszki (brachycefalia, wydatne czoło, przerzedzone w części bocznej brwi, znacznego stopnia hiperteloryzm, skośnie ku górze ustawione szpary powiekowe, zmarszczki nakątne, wydatny czubek nosa, płaska rynienka podnosowa, przodopochylenie nozdrzy, duże usta, cienka czerwień górnej wargi, wysokie podniebienie i łagodne małożuchwie), której towarzyszy osteopenia prowadząca do nawracających złamań kości długich, ciężka krótkowzroczność, łagodny lub umiarkowany niedosłuch zmysłowo-nerwowy lub mieszany, niedorozwój szkliwa, opadające ramiona i lekkiego stopnia niepełnosprawność intelektualna."},"cs":{"name":"Syndrom zahrnující obličejový dysmorfismus, těžkou myopii, osteopenii, mentální retardaci a zubní anomálie","synonyms":["Hamamyové syndrom","Syndrom zahrnující kraniofaciální dysplázii a osteopenii"]},"uk":{"name":"Синдром дисморфізму обличчя-аномалії очей-остеопенії-інтелектуальної недостатності-зубних аномалій","synonyms":["Синдром Хамамі"],"definition":"A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability."},"zh":{"name":"颅面发育不良-骨质减少综合征","synonyms":["Hamamy综合征"],"definition":"颅面发育不良-骨质减少综合征是一种罕见的胚胎发育障碍的遗传性发育缺陷，其特征是颅面畸形（包括短头、前额突出、外侧眉稀疏、严重眼距过宽、睑裂上斜、内眦褶皱、耳朵突出、鼻梁宽、鼻头尖，人中平坦，鼻孔前倾，嘴大，上唇薄，高腭弓，轻度小颌畸形）伴有骨质减少，导致反复长骨骨折，严重近视，轻度、至中度感音神经性或混合性听力损失，釉质发育不良，肩膀倾斜和轻度智力障碍。"},"tr":{"name":"Kraniofasiyal displazi-osteopeni sendromu","synonyms":["Hamamy sendromu"]}},"xrefs":[{"source":"OMIM","code":"611174","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012634","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12634","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566988","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":91133,"name":"OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":519329,"name":"Rare disorder involving multiple structures of the eye","classifications":[189]},{"orpha":522578,"name":"Rare genetic disorder involving multiple structures of the eye","classifications":[156]},{"orpha":420755,"name":"Rare genetic odontal or periodontal disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"IRX5","name":"iroquois homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22581230[PMID]","hgnc":"14361","ensembl":"ENSG00000176842","omim":"606195","loci":["16q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"22581230[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}