{"orpha":3363,"name":"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Long eyelashes-intellectual disability syndrome","Oliver-McFarlane syndrome"],"definition":"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3363/","orphanet_url":"https://www.orpha.net/en/disease/detail/3363","names":{"fr":{"name":"Syndrome de trichomégalie-dégénérescence rétinienne pigmentaire-retard de croissance","synonyms":["Syndrome d'Oliver-McFarlane","Syndrome de cils longs-déficience intellectuelle"],"definition":"Maladie génétique rare caractérisée par des anomalies des cheveux, une atrophie choriorétinienne sévère, un hypopituitarisme, une petite taille et une déficience intellectuelle."},"de":{"name":"Trichomegalie-Retina-Pigmentdegeneration-Kleinwuchs-Syndrom","synonyms":["Oliver-McFarlane-Syndrom","Syndrom der langen Wimpern mit Intelligenzminderung"],"definition":"Das Trichomegalie-retinale Pigmentdegeneration-Kleinwuchs-Syndrom, auch bekannt als Oliver-McFarlane-Syndrom, ist eine äußerst seltene genetische Störung, die durch Haaranomalien, schwere chorioretinale Atrophie, Hypopituitarismus, Kleinwuchs und Intelligenzminderung gekennzeichnet ist."},"es":{"name":"Síndrome de tricomegalia-degeneración retiniana pigmentaria-talla baja significativa","synonyms":["Síndrome de Oliver-MacFarlane","Síndrome de pestañas largas-discapacidad intelectual"],"definition":"Es un trastorno genético extremadamente poco frecuente caracterizado por anomalías capilares, atrofia coriorretiniana grave, hipopituitarismo, talla baja y discapacidad intelectual."},"it":{"name":"Sindrome tricomegalia-retinite pigmentosa-nanismo","synonyms":["Sindrome ciglia lunghe-disabilità intellettiva","Sindrome di Oliver-McFarlane"],"definition":"La tricomegalia - retinite pigmentosa - nanismo, nota anche come sindrome di Oliver-McFarlane, è una malattia genetica molto rara, caratterizzata da anomalie dei capelli e dell'apparato pilifero, grave atrofia corioretinica, ipopituitarismo, bassa statura e disabilità intellettiva."},"nl":{"name":"Trichomegalie - retinale pigmentdegeneratie - dwerggroei-syndroom","synonyms":["Lange wimpers - intellectuele achterstand-syndroom","Syndroom van Oliver-McFarlane"],"definition":"Trichomegalie -pigmentdegeneratie van de retina - dwerggroei-syndroom, ook gekend als syndroom van Oliver-McFarlane, is een uiterst zeldzame, genetische stoornis die gekarakteriseerd wordt door haaranomalieën, ernstige chorioretinale atrofie, hypopituïtarisme, kleine gestalte en intellectuele achterstand."},"pt":{"name":"Síndrome de tricomegalia-degenerescência pigmentosa da retina-nanismo","synonyms":["Síndrome Oliver-McFarlane","Síndrome de pestanas longas-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Trichomegalia- zwyrodnienie barwnikowe siatkówki - karłowatość","synonyms":["Długie rzęsy - niepełnosprawność intelektualna","Zespół Olivera i McFarlane'a"]},"cs":{"name":"Syndrom zahrnující trichomegalii, pigmentovou degeneraci sítnice a trpaslictví","synonyms":["Syndrom zahrnující dlouhé oční řasy a mentální retardaci","Oliverův-McFarlaneův syndrom","Oliver-McFarlaneův syndrom"]},"uk":{"name":"Синдром трихомегалії - пігментної дегенерації сітківки - карликовості","synonyms":["Синдром довгихі вій - інтелектуальної недостатності","Синдром Олівера-Макфарлейна"],"definition":"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability."},"zh":{"name":"睫毛粗长症-视网膜色素变性-矮小综合征","synonyms":["长睫毛-智力障碍综合征"]},"tr":{"name":"Trikomegali-retina pigmenter dejenerasyon-cücelik sendromu","synonyms":["Oliver-McFarlane sendromu","Uzun kirpikler-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"275400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1410554976"},{"source":"MONDO","code":"0010152","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536554","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848745","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5266","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]},{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PNPLA6","name":"patatin like domain 6, lysophospholipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25480986[PMID]","hgnc":"16268","ensembl":"ENSG00000032444","omim":"603197","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"25480986[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25480986[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-12-01","source":"33818269[PMID]_32586184[PMID]_25574898[PMID]_32758583[PMID]_16152639[PMID]","terms":[{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}