{"orpha":2220,"name":"Hypertrichosis cubiti","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hairy elbows syndrome","MacDermot-Patton-Williams syndrome"],"definition":"Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2220/","orphanet_url":"https://www.orpha.net/en/disease/detail/2220","names":{"fr":{"name":"Hypertrichose cubitale","synonyms":["Syndrome de MacDermot-Patton-Williams","syndrome de coudes chevelus"],"definition":"Anomalie rare des cheveux caractérisée par une hypertrychose bilatérale symétrique, congénitale ou précoce, localisée sur les surfaces externes des extrémités supérieures (en particulier les coudes). Une petite taille ou d'autres anomalies, telles qu'un retard de développement, des anomalies faciales et une déficience intellectuelle, peuvent ou non être associées."},"de":{"name":"Hypertrichosis cubiti","synonyms":["Behaarte-Ellenbogen-Syndrom","Mac-Dermot-Patton-Williams-Syndrom"],"definition":"Die Hypertrichosis cubiti ist eine seltene Haaranomalie, die durch eine symmetrische, angeborene oder früh einsetzende, bilaterale Hypertrichose gekennzeichnet ist, die an den Außenflächen der oberen Extremitäten (insbesondere an den Ellenbogen) lokalisiert ist. Kleinwuchs oder andere Anomalien wie Entwicklungsverzögerung, Gesichtsanomalien und Intelligenzminderung können damit einhergehen, müssen es aber nicht."},"es":{"name":"Hipertricosis cubital","synonyms":["Síndrome de MacDermot-Patton-Williams","Síndrome de los codos peludos"],"definition":"Es una anomalía poco frecuente del pelo caracterizada por hipertricosis bilateral simétrica, congénita o de inicio temprano, localizada en la superficie extensora de las extremidades superiores (especialmente en los codos). La talla baja u otras anomalías tales como retraso del desarrollo, anomalías faciales y discapacidad intelectual, pueden o no estar asociadas."},"it":{"name":"Ipertricosi dei gomiti","synonyms":["Gomiti pelosi","Sindrome di MacDermot-Patton-Williams"],"definition":"L'ipertricosi dei gomiti è un'anomalia rara dei peli, caratterizzata da ipertricosi bilaterale simmetrica, congenita o ad esordio precoce, localizzata sulle superfici estensorie degli arti superiori (in particolare i gomiti). Possono associarsi bassa statura o altre anomalie, come il ritardo dello sviluppo, i dismorfismi facciali e la disabilità intellettiva."},"nl":{"name":"Hypertrichosis cubiti","synonyms":["Behaarde ellebogen-syndroom","Syndroom van MacDermot-Patton-Williams"],"definition":"Hypertrichosis cubiti is een zeldzame haaranomalie die gekarakteriseerd wordt door symmetrische, congenitale of vroeg aanvangende, bilaterale hypotrichose op de strekzijde van de bovenste ledematen (voornamelijk de ellebogen). Kleine gestalte, of andere afwijkingen, zoals ontwikkelingsachterstand, gelaatsanomalieën en intellectuele achterstand, kunnen al dan niet geassocieerd zijn."},"pt":{"name":"Hipertricose cubital","synonyms":["Síndrome MacDermot-Patton-Williams","Síndrome de cotovelos peludos"]},"pl":{"name":"Hipertrichoza łokciowa","synonyms":["Owłosione łokcie","Zespół MacDermota, Pattona i Williamsa"],"definition":"*Hipertrichoza łokciowa to rzadka anomalia dotycząca włosów, która charakteryzuje się symetryczną, wrodzoną lub wcześnie się pojawiającą obustronną hipertrichozą (nadmiernym owłosieniem), zlokalizowaną na zewnętrznych powierzchniach kończyn górnych (szczególnie łokci). Towarzyszyć mogą, ale nie muszą: niski wzrost oraz inne nieprawidłowości, takie jak opóźnienie rozwoju, anomalie twarzy i niepełnosprawność intelektualna."},"cs":{"name":"Hypetrichosis cubiti","synonyms":["Syndrom zahrnující hypertrichosis cubiti a nízký vzrůst","Syndrom chlupatých předloktí","MacDermotův-Pattonův-Williamsův syndrom","MacDermot-Patton-Williamsův syndrom"]},"uk":{"name":"Гіпертрихоз ліктьової ділянки","synonyms":["Синдром волохатих ліктів","Синдром Макдермота-Паттона-Вільямса"],"definition":"Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated."},"zh":{"name":"肘部多毛症","synonyms":["MacDermot-Patton-Williams综合征"]},"tr":{"name":"Hipertrikoz kubiti","synonyms":["Tüylü dirsek sendromu","MacDermot-Patton-Williams sendromu"]}},"xrefs":[{"source":"OMIM","code":"139600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"112708478"},{"source":"MeSH","code":"C535618","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841696","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"143","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068636","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"16355816[PMID]"},{"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":"2017-07-28","source":null,"terms":[{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}