{"orpha":166035,"name":"Brachydactyly-short stature-retinitis pigmentosa syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166035/","orphanet_url":"https://www.orpha.net/en/disease/detail/166035","names":{"fr":{"name":"Syndrome de brachydactylie-petite taille-rétinite pigmentaire","definition":"Syndrome génétique rare d'anomalie congénitale des membres caractérisé par une petite taille de forme légère à sévère, une brachydactylie et une dégénérescence rétinienne (généralement une rétinite pigmentaire), associées à une déficience intellectuelle de degré variable, à des retards de développement et à des anomalies craniofaciales."},"de":{"name":"Brachydaktylie-Kleinwuchs-Retinitis pigmentosa-Syndrom"},"es":{"name":"Síndrome de braquidactilia-talla baja-retinosis pigmentaria","definition":"El síndrome de braquidactilia - talla baja - retinosis pigmentaria es un síndrome de malformación congénita de las extremidades, genético y poco frecuente, caracterizado por talla baja de leve a grave, braquidactilia y degeneración retiniana (generalmente retinitis pigmentosa), asociada a discapacidad intelectual variable, retraso en el desarrollo y anomalías craneofaciales."},"it":{"name":"Sindrome da brachidattilia, bassa statura, retinite pigmentosa","definition":"La sindrome che associa la brachidattilia, la bassa statura e la retinite pigmentosa è una malformazione congenita genetica rara degli arti, caratterizzata da statura lievemente o gravemente bassa, brachidattilia, degenerazione retinica (di solito retinite pigmentosa), disabilità intellettiva di grado variabile, ritardo dello sviluppo ed anomalie craniofacciali."},"nl":{"name":"Brachydactylie - kleine gestalte - retinitis pigmentosa-syndroom","definition":"Brachydactylie - kleine gestalte - retinitis pigmentosa-syndroom is een zeldzaam, genetisch syndroom met congenitale malformatie van ledematen, en wordt gekarakteriseerd door milde tot ernstige kleine gestalte, brachydactylie, en retinale degeneratie (meestal retinitis pigmentosa), geassocieerd met variabele intellectuele achterstand, ontwikkelingsachterstand, en craniofaciale anomalieën."},"pt":{"name":"Síndrome de braquidactilia-baixa estatura-retinite pigmentosa"},"pl":{"name":"Zespół brachydaktylii, niskiego wzrostu i barwnikowego zwyrodnienia siatkówki","definition":"*Zespół brachydaktylii, niskiego wzrostu i barwnikowego zwyrodnienia siatkówki jest rzadkim, genetycznie uwarunkowanym zespołem wrodzonych wad rozwojowych kończyn. Charakteryzuje się niskim wzrostem (niewielki lub znaczny niedobór wzrostu), brachydaktylią i zwyrodnieniem siatkówki (zwykle barwnikowe zwyrodnienie siatkówki); towarzyszy różnego stopnia niepełnosprawność intelektualna, opóźnienie rozwoju i wady twarzoczaszki."},"cs":{"name":"Metafyzární chondrodysplázie s retinitis pigmentosa"},"uk":{"name":"Синдром брахідактилії - низькорослості-пігментної дегенерації сітківки","definition":"Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies."},"zh":{"name":"短指-矮小-视网膜色素变性综合征","definition":"短指/趾-身材矮小-视网膜色素变性综合征是一种罕见的遗传性先天性肢体畸形综合征，以轻至重度身材矮小、短指/趾和视网膜变性(常为视网膜色素变性)为特征，并伴有不同程度的智能障碍、发育迟缓和颅面畸形。"},"tr":{"name":"Brakidaktili-kısa boy-retinitis pigmentosa sendromu"}},"xrefs":[{"source":"OMIM","code":"250410","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009598","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"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":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CWC27","name":"CWC27 spliceosome associated cyclophilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28285769[PMID]","hgnc":"10664","ensembl":"ENSG00000153015","omim":"617170","loci":["5q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"7252997[PMID]_28285769[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7252997[PMID]_28285769[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-12","source":"7252997[PMID]_10420199[PMID]_28285769[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005345","label":"Abnormal vena cava morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030455","label":"Abnormality of pattern visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005871","label":"Metaphyseal chondrodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null}]}}