{"orpha":198,"name":"Occipital horn syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-198/","orphanet_url":"https://www.orpha.net/en/disease/detail/198","names":{"fr":{"name":"Syndrome de la corne occipitale","definition":"Trouble congénital rare du métabolisme du cuivre qui se caractérise principalement par des exostoses osseuses (dont les cornes occipitales pathognomoniques) et des manifestations du tissu conjonctif avec cutis laxa et diverticules vésicaux. L'atteinte du système nerveux central est variable."},"de":{"name":"Okzipitalhorn-Syndrom","definition":"Eine seltene angeborene Störung des Kupferstoffwechsels, die hauptsächlich durch knöcherne Exostosen (einschließlich der pathognomonischen Okzipitalhörner) und Bindegewebsmanifestationen mit Cutis laxa und Blasendivertikeln gekennzeichnet ist. Die Beteiligung des zentralen Nervensystems ist variabel."},"es":{"name":"Síndrome del cuerno occipital","definition":"Es un trastorno congénito poco frecuente del metabolismo del cobre caracterizado principalmente por exostosis óseas (incluyendo los cuernos occipitales patognomónicos) y trastornos del tejido conectivo con cutis laxa y divertículos vesicales. La afectación del sistema nervioso central es variable."},"it":{"name":"Sindrome del corno occipitale","definition":"La sindrome del corno occipitale (OHS) è una malattia congenita rara del metabolismo del rame, caratterizzata da esostosi ossee (comprese le corna occipitali patognomoniche) e anomalie del tessuto connettivo con cutis laxa e diverticoli vescicali. Il coinvolgimento del sistema nervoso centrale è variabile."},"nl":{"name":"Occipitale hoorn-syndroom","definition":"Een zeldzame congenitale aandoening van kopermetabolisme, hoofdzakelijk gekarakteriseerd door benige exostosen (inclusief de pathognomonische occipitale hoorns) en manifestaties van bindweefsel, zoals cutis laxa en blaasdivertikels. Betrokkenheid van centraal zenuwstelsel is variabel."},"pt":{"name":"Síndrome corno occipital","definition":"A síndrome do corno ocipital (OHS) é uma forma ligeira da doença de Menkes (MD, ver este termo), uma síndrome caracterizada por neurodegeneração progressiva e alterações do tecido conjuntivo devido a um defeito no transporte do cobre."},"pl":{"name":"Zespół rogu potylicznego"},"cs":{"name":"Syndrom okcipitálního rohu","synonyms":["EDS IX","X-vázaná cutis laxa","Ehlersův-Danlosův syndrom, typ 9","Ehlersův-Danlosův syndrom, typ IX","Ehlers-Danlosův syndrom, typ 9","Ehlers-Danlosův syndrom, typ IX"]},"uk":{"name":"Синдром потиличного рогу","definition":"A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable."},"zh":{"name":"枕骨角综合征","synonyms":["埃勒斯-丹洛斯综合征IX型"]},"tr":{"name":"Oksipital boynuz sendromu","synonyms":["EDS IX","X'e bağlı kutis laksa","Ehlers-Danlos sendromu tip 9","Ehlers-Danlos sendromu tip IX"]}},"xrefs":[{"source":"OMIM","code":"304150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"921797768"},{"source":"MONDO","code":"0010572","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537860","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268353","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4017","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]},{"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":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATP7A","name":"ATPase copper transporting alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301586[PMID]","hgnc":"869","ensembl":"ENSG00000165240","omim":"300011","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"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":{"validation_status":"y","online":"y","validation_date":"2017-06-21","source":"20301586[PMID]","terms":[{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025270","label":"Abnormal esophagus physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100240","label":"Synostosis of joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003172","label":"Abnormality of the pubic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009556","label":"Absent tibia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006507","label":"Aplasia/hypoplasia of the humerus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000015","label":"Bladder diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003874","label":"Humerus varus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008818","label":"Large iliac wings","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Occasional (29-5%)","criteria":null}]}}