{"orpha":1005,"name":"Alopecia-contractures-dwarfism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ACD-intellectual disability syndrome"],"definition":"A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1005/","orphanet_url":"https://www.orpha.net/en/disease/detail/1005","names":{"fr":{"name":"Syndrome d'alopécie-contractures-nanisme-déficience intellectuelle","definition":"Le syndrome d'alopécie-contractures-nanisme-déficience intellectuelle (syndrome ACD) est une forme de dysplasie ectodermique caractérisée par une petite taille d'apparition néonatale, une alopécie, une ichthyose, une photophobie, une ectrodactylie, des convulsions, une scoliose, de multiples contractures, une fusion osseuse (touchant surtout les épaules, les carpes, les métacarpes et la colonne vertébrale), un déficit intellectuel et une dysmorphie faciale (microdolichocéphalie, madarose, larges oreilles et long nez). Le syndrome ACD se superpose avec le syndrome d'ichtyose folliculaire-alopécie-photophobie."},"de":{"name":"Alopezie-Kontrakturen-Kleinwuchs-Intelligenzminderung-Syndrom","synonyms":["ACD-Intelligenzminderung-Syndrom"],"definition":"Eine syndromale Form der Ektodermalen Dysplasie, die durch pränatal einsetzenden Kleinwuchs, Alopezie, Ichthyose, Photophobie, Ektrodaktylie, Krampfanfälle, Skoliose, multiple Kontrakturen, Fusionen verschiedener Knochen (insbesondere Ellenbogen, Handwurzelknochen, Mittelhandknochen und Wirbelsäule), Intelligenzminderung und Gesichtsdysmorphien (Mikrodolichozephalie, Madarose, große Ohren und lange Nase) gekennzeichnet ist. Das ACD-Syndrom überschneidet sich mit dem Ichthyosis follicularis-Alopezie-Photophobie-Syndrom."},"es":{"name":"Síndrome de alopecia-contracturas-talla baja significativa-discapacidad intelectual","definition":"Es una forma del síndrome de displasia ectodérmica caracterizada por talla baja de inicio prenatal, alopecia, ictiosis, fotofobia, ectrodactilia, crisis epilépticas, escoliosis, contracturas múltiples, fusiones de varios huesos (particularmente codos, carpianos, metacarpianos y espina dorsal), discapacidad intelectual, y dismorfia facial (microdolicocefalia, madarosis, orejas grandes y nariz larga). El síndrome ACD se superpone con el síndrome de ictiosis folicular-alopecia-fotofobia."},"it":{"name":"Sindrome alopecia-contratture-nanismo-disabilità cognitiva","synonyms":["Sindrome ACD-disabilità cognitiva"],"definition":"La sindrome alopecia-contratture-nanismo-disabilità cognitiva (sindrome ACD) è una forma di displasia ectodermica caratterizzata da bassa statura ad esordio prenatale, alopecia, ittiosi, fotofobia, ectrodattilia, crisi epilettiche, scoliosi, contratture multiple, fusioni ossee (che interessano in particolare i gomiti, i carpi, i metacarpi e la spina dorsale), disabilità cognitiva e dimorfismi facciali (microdolicocefalia, madarosi, orecchie grandi e naso lungo). La sindrome ACD è sovrapponibile all'ittiosi follicolare-alopecia-fotofobia."},"nl":{"name":"Alopecie - contracturen - dwerggroei - intellectuele achterstand-syndroom","synonyms":["ACD - intellectuele achterstand-syndroom"],"definition":"Een vorm van ectodermale dysplasiesyndroom, gekarakteriseerd door kleine gestalte met prenatale aanvang, alopecie, ichthyosis, fotofobie, ectrodactylie, insulten, scoliose, meervoudige contracturen, fusies van verschillende botten (voornamelijk ellebogen, carpalen, metacarpalen, en wervelkolom), intellectuele achterstand, en faciale dysmorfie (microdolichocefalie, madarose, grote oren en lange neus). ACD-syndroom overlapt met ichthyosis follicularis - alopecie - fotofobie-syndroom."},"pt":{"name":"Síndrome de alopecia-contraturas-nanismo-perturbação do desenvolvimento intelectual","synonyms":["Síndrome de ACD-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół łysienie, przykurcze, karłowatość i niepełnosprawność intelektualna","synonyms":["ACD-intellectual disability syndrome"]},"cs":{"name":"Syndrom zahrnující alopecii, kontraktury, trpaslictví a mentální retardaci","synonyms":["ACD-intellectual disability syndrome"]},"uk":{"name":"Синдром алопеції - контрактур - карликовості - інтелектуальної недостатності","synonyms":["Синдром ACD-інтелектуальної недостатності"],"definition":"A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome."},"zh":{"name":"脱发-挛缩-侏儒症-智力障碍综合征","synonyms":["ACD-智力障碍综合征"]},"tr":{"name":"Alopesi-kontraktürler-cücelik-zihinsel yetersizlik sendromu","synonyms":["ACD-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"203550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1535062958"},{"source":"MONDO","code":"0008754","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537051","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303742","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"605","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"6250998[PMID]_7158638[PMID]_10861681[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6250998[PMID]_7158638[PMID]_10861681[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006887","label":"Intellectual disability, progressive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008855","label":"Moderate postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}