{"orpha":97340,"name":"Hunter-McAlpine syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97340/","orphanet_url":"https://www.orpha.net/en/disease/detail/97340","names":{"fr":{"name":"Syndrome de Hunter-McAlpine","definition":"Le syndrome d'Hunter-McAlpine est caractérisé par une craniosynostose, un déficit intellectuel, une petite taille, une dysmorphie (un visage ovale avec des fentes palpébrales en amande, des paupières tombantes et un petit nez) et des anomalies distales mineures. Il a été décrit chez 10 patients. De transmission autosomique dominante, il serait lié à la duplication d'une partie du bras long du chromosome 5 (5q35-5qter)."},"de":{"name":"Hunter-McAlpine -Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Kraniosynostose, intellektuelles Defizit, Kleinwuchs, faziale Dysmorphien (ovale Gesicht, mandelförmige Lidspalten, hängende Lider, kleine Nase) und kleine distale Anomalien."},"es":{"name":"Síndrome de Hunter-McAlpine","definition":"Es un trastorno caracterizado por craneosinostosis, déficit intelectual, talla baja, dismorfia facial (cara ovalada con fisuras palpebrales almendradas, párpados caídos y nariz pequeña) y anomalías distales menores. Se ha descrito en 10 pacientes. La transmisión es autosómica dominante y el síndrome se asocia con la duplicación parcial del brazo largo del cromosoma 5 (5q35-5qter)."},"it":{"name":"Sindrome di Hunter-McAlpine"},"nl":{"name":"Syndroom van Hunter-McAlpine","definition":"Craniosynostose, Hunter-McAlpine-type wordt gekenmerkt door craniosynostose, intellectuele achterstand, kleine gestalte, faciale dysmorfie (ovaal aangezicht met amandelvormige ooglidspleten, afhangende oogleden, en kleine neus), en geringe distale anomalieën. De aandoening werd beschreven bij tien patiënten. Transmissie gebeurt autosomaal dominant, en het syndroom is geassocieerd met partiële duplicatie van de lange arm van chromosoom 5 (5q35-5qter)."},"pt":{"name":"Síndrome Hunter-McAlpine"},"pl":{"name":"Kraniosynostoza Hunter i McAlpine","synonyms":["Zespół Hunter-McAlpine"]},"cs":{"name":"Hunter-McAlpinové syndrom","synonyms":["Hunter-McAlpinové kraniosynostóza"]},"uk":{"name":"Синдром Хантера-МакАльпайна","definition":"Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)."},"zh":{"name":"Hunter-McAlpine型颅缝早闭症","definition":"Hunter-McAlpine颅缝闭合症的特征是颅缝闭合、智力缺陷、身材矮小、面部畸形（椭圆形脸伴杏仁状眼睑裂、眼睑下垂和小鼻子）和轻微的远端异常。目前已有10名患者被报道。呈常染色体显性遗传，该综合征与5号染色体长臂部分重复（5q35-5qter）有关。"},"tr":{"name":"Hunter-McAlpine kraniyosinostoz"}},"xrefs":[{"source":"OMIM","code":"601379","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1445975694"},{"source":"MONDO","code":"0011065","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536072","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832408","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2754","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}