{"orpha":2251,"name":"Thumb deformity-alopecia-pigmentation anomaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Sparse hair-short stature-skin anomalies syndrome"],"definition":"Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2251/","orphanet_url":"https://www.orpha.net/en/disease/detail/2251","names":{"fr":{"name":"Syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation","synonyms":["Syndrome de cheveux épars-petite taille-anomalies cutanées"],"definition":"Syndrome rare avec malformation congénitale des membres d'origine génétique, caractérisé par une petite taille, des cheveux clairsemés, des pouces hypoplasiques, placés en position proximale, et une hyperpigmentation de la peau avec des zones de dépigmentation en « gouttes de pluie ». La présence d'une seule incisive centrale supérieure a également été rapportée. Aucun cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"Daumenfehlbildung-Alopezie-Pigmentanomalie-Syndrom","synonyms":["Spärliches Haar-Kleinwuchs-Hautanomalien-Syndrom"]},"es":{"name":"Síndrome de malformación del pulgar-alopecia-anomalías pigmentarias","synonyms":["Síndrome de cabello escaso-talla baja-anomalías de la piel"],"definition":"Es un síndrome malformativo de las extremidades, congénito, genético y poco frecuente, caracterizado por talla baja, cabello escaso, pulgares hipoplásicos situados proximalmente e hiperpigmentación cutánea con áreas de despigmentación con aspecto en \"gotas de lluvia\". También se ha descrito la presencia de un incisivo central superior único. No se han descrito más casos en la literatura desde 1988."},"it":{"name":"Sindrome da deformità del pollice, alopecia ed anomalie della pigmentazione","definition":"La sindrome che associa deformità del pollice, alopecia ed anomalie della pigmentazione è una sindrome malformativa congenita rara degli arti, di origine genetica, caratterizzata da bassa statura, capelli radi, pollici ipoplastici ad impianto prossimale ed iperpigmentazione della cute con aree di depigmentazione a forma di goccia. Sono stati osservati pazienti con un incisivo unico centrale superiore. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Duimmisvorming - alopecie - pigmentanomalie-syndroom","synonyms":["Schaars haar - kleinde gestalte - huidanomalieën-syndroom"],"definition":"Duimmisvorming - alopecie - pigmentanomalie-syndroom is een zeldzaam, genetisch, congenitaal malformatiesyndroom van de ledematen, en wordt gekarakteriseerd door een kleine gestalte, schaars hoofdhaar, hypoplastische en proximaal geplaatste duimen, en hyperpigmentatie van de huid met gebieden van depigmentatie in de vorm van regendruppels. De aanwezigheid van één enkele bovenste centrale snijtand werd ook reeds gerapporteerd. Sinds 1988 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de malformação do polegar-alopecia-anomalia da pigmentação"},"pl":{"name":"Deformacja kciuka - łysienie - zaburzenia pigmentacji","synonyms":["Sparse hair-short stature-skin anomalies syndrome"],"definition":"*Deformacja kciuka - łysienie - zaburzenia pigmentacji jest rzadkim, genetycznie uwarunkowanym, wrodzonym zespołem wad rozwojowych kończyn, który charakteryzuje się niskim wzrostem, rzadkimi włosami na głowie, hipoplastycznymi, osadzonymi proksymalnie kciukami i hiperpigmentacją skóry z punktowymi odbarwieniami. Opisywano także obecność pojedynczego, górnego środkowego siekacza. Od 1988 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující deformity palce, alopecii a anomálii pigmentace","synonyms":["Sparse hair-short stature-skin anomalies syndrome"]},"uk":{"name":"Синдром деформації великого пальця-алопеції- аномалії пігментації","synonyms":["Синдром рідкого волосся - низького зросту - аномалій шкіри"],"definition":"Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988."},"zh":{"name":"拇指畸形-脱发-色素沉着异常综合征","synonyms":["稀毛症-身材矮小-皮肤畸形综合征"]},"tr":{"name":"Başparmak deformitesi-alopesi-pigmentasyon anomalisi sendromu","synonyms":["Seyrek saç-kısa boy-cilt anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"188150","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":"987692472"},{"source":"MONDO","code":"0008562","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536904","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861168","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":79132,"name":"OBSOLETE: Sparse hair-short stature-skin anomalies syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3344769[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3344769[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-31","source":null,"terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040036","label":"Onychogryposis of fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008402","label":"Ridged fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}