{"orpha":99688,"name":"Dermotrichic syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99688/","orphanet_url":"https://www.orpha.net/en/disease/detail/99688","names":{"fr":{"name":"Syndrome dermotriche","definition":"Syndrome génétique rare de dysplasie ectodermique caractérisé par des anomalies de la peau, des cheveux et des ongles (ichtyose généralisée, pelade universelle congénitale, dystrophie et déformation convexe de l'ongle), en association avec une hypohidrose sans hyperthermie, une déficience intellectuelle, des crises d'épilepsie et des anomalies squelettiques (petite taille proportionnelle, platyspondylie) et intestinales (mégacôlon aganglionnaire congénital). La dysmorphie faciale est à type de saillie des bosses frontales, de blépharophimose, de grandes oreilles, de pont nasal déprimé et de petit nez. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Dermotrichales Syndrom"},"es":{"name":"Síndrome tricodérmico","definition":"Es un síndrome de displasia ectodérmica, genético y poco frecuente que se caracteriza por anomalías de la piel, el cabello y las uñas (por ejemplo, ictiosis generalizada, alopecia congénita universal, uñas convexas y distróficas), asociadas con una hipohidrosis sin hipertermia, discapacidad intelectual, convulsiones y anomalías esqueléticas (por ejemplo, talla baja proporcionada, platispondilia) e intestinales (p. ej., megacolon agangliónico congénito). La dismorfia facial incluye frente prominente, blefarofimosis, orejas grandes, puente nasal bajo y nariz pequeña. No ha habido nuevos casos descritos en la literatura desde 1992."},"it":{"name":"Sindrome dermotrichica","definition":"La sindrome dermotrichica è una displasia ectodermica genetica rara, caratterizzata da anomalie della cute, dei capelli e delle unghie (ittiosi generalizzata, alopecia universale congenita, unghie distrofiche e convesse), associate ad ipoidrosi senza ipertermia, disabilità intellettiva, crisi epilettiche ed anomalie scheletriche (bassa statura proporzionata, platispondilia) e intestinali (megacolon agangliare). I dismorfismi facciali comprendono la fronte bombata, la blefarofimosi, le orecchie grandi, la sella nasale infossata e il naso piccolo. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Dermotrichaal syndroom","definition":"Dermotrichaal syndroom is een zeldzaam, genetisch, ectodermaal dysplasiesyndroom dat gekarakteriseerd wordt door anomalieën van huid, haar en nagels (i.e. gegeneraliseerde ichthyosis, congenitale alopecia universalis, dystrofische en convexe nagels), geassocieerd met hypohidrose zonder hyperthermie, intellectuele beperking, insulten, en skelet- (e.g. proportioneel kleine gestalte, platyspondylie) en intestinale (e.g. congenitaal aganglionisch megacolon) anomalieën. Faciale dysmorfie omvat boller voorhoofd, blefarofimose, grote oren, lage neusbrug en kleine neus. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome dermotríquico"},"pl":{"name":"Zespół skórno-włosowy"},"cs":{"name":"Dermotrichický syndrom"},"uk":{"name":"Дермотрихіальний синдром","definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992."},"zh":{"name":"皮肤毛发综合征","definition":"皮毛综合征是一种罕见的遗传性外胚层发育不良综合征，以皮肤、头发和指甲异常(如全身性鱼鳞病、先天性全面性脱发、营养不良、指甲凸出)为特征，伴有少汗、无高热、智力障碍、癫痫发作、骨骼异常(如比例矮小、颈椎病)和肠道畸形(如先天性无神经节细胞巨结肠)。面部畸形包括额部隆起、眼睑畸形、大耳朵、低鼻梁和小鼻子。自1992年来，文献中没有进一步的描述。"},"tr":{"name":"Dermotrik sendrom"}},"xrefs":[{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795919","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14708109[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-05","source":"1456297[PMID]","terms":[{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030055","label":"Hyperconvex toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null}]}}