{"orpha":2266,"name":"Hypotrichosis-intellectual disability, Lopes type","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Lopes-Marques de Faria syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2266/","orphanet_url":"https://www.orpha.net/en/disease/detail/2266","names":{"fr":{"name":"Hypotrichose-déficience intellectuelle, type Lopes","synonyms":["Syndrome de Lopes-Marques de Faria"],"definition":"Syndrome de dysplasie ectodermique rare caractérisé par une hypotrichose du cuir chevelu et des sourcils, une syndactylie des doigts, une déficience intellectuelle et une éruption dentaire précoce. Une dysmorphie faciale (visage rond avec un front, des joues et des oreilles proéminents et des fentes palpébrales inclinées vers le haut), une hypoplasie des phalanges intermédiaires et distales et une cyphose figurent parmi les autres signes observés. Aucun cas n'a été décrit dans la littérature depuis 1996."},"de":{"name":"Hypotrichose mit Intelligenzminderung Typ Lopes","synonyms":["Lopes-Marques-de-Faria-Syndrom"],"definition":"Ein seltenes Syndrom aus der Gruppe der ektodermalen Dysplasien, das durch Hypotrichose der Kopfhaut und der Augenbrauen, Fingersyndaktylie, intellektuelle Entwicklungsstörung und frühes Durchbrechen der Zähne gekennzeichnet ist. Gesichtsdysmorphien (d.h. rundes Gesicht mit prominenter Stirn, Wangen und Ohren und nach oben schräg verlaufenden Lidspalten), Hypoplasie der medianen und distalen Phalangen und Kyphose sind zusätzlich beobachtete Merkmale. Seit 1996 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Hipotricosis-discapacidad intelectual tipo Lopes","synonyms":["Síndrome de Lopes-Marques de Faria"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por hipotricosis del cuero cabelludo y las cejas, sindactilia en los dedos de la mano, discapacidad intelectual y erupción temprana de los dientes. Otros hallazgos adicionales observados son dismorfia facial (cara redondeada con frente, mejillas y orejas prominentes y fisuras palpebrales inclinadas hacia arriba), hipoplasia de falanges medias y distales, y cifosis. No ha habido más casos descritos en la literatura desde 1996."},"it":{"name":"Ipotricosi-disabilità intellettiva tipo Lopes","synonyms":["Sindrome di Lopes-Marques de Faria"],"definition":"Si tratta di una displasia ectodermica rara, caratterizzata da ipotricosi del cuoio capelluto e delle sopracciglia, sindattilia delle mani, disabilità intellettiva ed eruzione precoce dei denti. I pazienti presentano anche dismorfismi facciali (viso arrotondato con fronte, guance e orecchie prominenti, e rime palpebrali oblique verso l'alto), ipoplasia delle falangi mediane e distali, e cifosi. Non sono stati descritti nuovi casi dopo il 1996."},"nl":{"name":"Hypotrichose-intellectuele achterstand, Lopes-type","synonyms":["Syndroom van Lopes-Marques de Faria"],"definition":"Een zeldzaam ectodermale dysplasiesyndroom gekarakteriseerd door hypotrichose van hoofdhaar en wenkbrauwen, syndactylie van vingers, intellectuele achterstand, en vroege eruptie van tanden. Faciale dysmorfie (i.e. rond gezicht met prominent voorhoofd, prominente wangen en oren, en schuin naar boven hellende ooglidspleten), hypoplasie van mediane en distale falangen, en kyfose zijn bijkomend geobserveerde kenmerken. Sinds 1996 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Hipotricose-perturbação do desenvolvimento intelectual, tipo Lopes","synonyms":["Síndrome Lopes-Marques de Faria"]},"pl":{"name":"Hipotrichoza - niepełnosprawność intelektualna typu Lopesa","synonyms":["Zespół Lopesa i Marques de Faria"]},"cs":{"name":"Hypertrichóza a mentální retardace, Lopesové typ","synonyms":["Lopesové-Marques de Fariaové syndrom","Lopes-Marques de Fariaové syndrom"]},"uk":{"name":"Гіпотрихоз - розумова відсталість, тип Лопеса","synonyms":["Синдром Лопеса-Маркеса де Фаріа"],"definition":"A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996."},"zh":{"name":"少毛症-智力障碍Lopes型","synonyms":["Lopes-Marques de Faria综合征"]},"tr":{"name":"Hipotrikoz-zihinsel yetersizlik, Lopes tipi","synonyms":["Lopes-Marques de Faria sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509839","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":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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8652088[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8652088[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-25","source":"8652088[PMID]","terms":[{"hpo":"HP:0006088","label":"1-5 finger complete cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null}]}}