{"orpha":2339,"name":"Keratosis follicularis-dwarfism-cerebral atrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2339/","orphanet_url":"https://www.orpha.net/en/disease/detail/2339","names":{"fr":{"name":"Syndrome de kératose folliculaire-nanisme-atrophie cérébrale","definition":"Syndrome d'anomalie rare du développement embryonnaire, d'origine génétique, caractérisé par une kératose folliculaire généralisée, une petite taille proportionnée de forme sévère et une atrophie cérébrale. Les patients sont également atteints d'alopécie (cuir chevelu, sourcils et cils) et présentent une microcéphalie. Une déficience intellectuelle, une hernie inguinale et une épilepsie peuvent aussi être associées. Aucun cas n'a été décrit dans la littérature depuis 1974."},"de":{"name":"Keratosis follicularis-Kleinwuchs-Hirnatrophie-Syndrom","definition":"Ein seltener, genetisch bedingter syndromaler Entwicklungsdefekt während der Embryogenese, der durch generalisierte Keratosis follicularis, schweren proportionalen Zwergwuchs und zerebrale Atrophie gekennzeichnet ist. Weitere Symptome waren generalisierte Alopezie und Mikrozephalie. Intelligenzminderung, Leistenbruch und Epilepsie können ebenfalls assoziiert sein. Seit 1974 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de queratosis folicular-talla baja significativa-atrofia cerebral","synonyms":["Síndrome de queratosis folicular-enanismo-atrofia cerebral"],"definition":"Es un defecto del desarrollo embrionario, de origen genético y poco frecuente, caracterizado por queratosis folicular generalizada, talla baja extrema proporcionada y atrofia cerebral. Otros hallazgos adicionales observados son alopecia (del cuero cabelludo, las cejas y las pestañas) y microcefalia. El síndrome también puede asociar discapacidad intelectual, hernia inguinal y epilepsia. No ha habido más casos descritos en la literatura desde 1974."},"it":{"name":"Sindrome da cheratosi follicolare-nanismo-atrofia cerebrale","definition":"Si tratta di un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da cheratosi follicolare generalizzata, nanismo grave proporzionato e atrofia cerebrale. I pazienti presentano anche alopecia (del cuoio capelluto, delle sopracciglia e delle ciglia) e microcefalia. Può associarsi a disabilità intellettiva, ernia inguinale ed epilessia. Non sono stati descritti nuovi casi dopo il 1974."},"nl":{"name":"Keratosis follicularis - dwerggroei - cerebrale atrofie-syndroom","definition":"Een zeldzaam, genetisch syndroom door een ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door gegeneraliseerde keratosis follicularis, ernstige proportionele dwerggroei en cerebrale atrofie. Alopecie (van hoofdhaar, wenkbrauwen en wimpers) en microcefalie zijn bijkomend geobserveerde kenmerken. Intellectuele achterstand, liesbreuk en epilepsie kunnen ook geassocieerd zijn. Sinds 1974 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de queratose folicular-nanismo-atrofia cerebral"},"pl":{"name":"Rogowacenie mieszkowe - karłowatość - atrofia mózgu"},"cs":{"name":"Syndrom zahrnující folikulární keratózu, trpaslictví a cerebrální atrofii"},"uk":{"name":"Синдром фолікулярного кератозу-карликовості-церебральної атрофії","definition":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974."},"zh":{"name":"毛囊角化病-侏儒症-脑萎缩综合征"},"tr":{"name":"Keratoz folikularis-cücelik-serebral atrofi sendromu"}},"xrefs":[{"source":"OMIM","code":"308830","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010638","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536158","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510086","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3099","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4834251[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"4834251[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-03","source":"4834251[PMID]","terms":[{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007439","label":"Generalized keratosis follicularis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null}]}}