Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

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SNOMED-CT via HPO 69 271611007 48069004 194021007 22006008 275480001 69056000 249311009 57190000 246799009 26996000 396228006 399955009 45004005 43476002 84445001 199612005 22033007 278040002 56317004 111266001 64217002 414564002 157265008 205455005 237836003 237837007 422065006 249769001 268251006 34048007 700189007 more

UMLS 73 C0795895

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1005Disease definitionAlopecia-contractures-dwarfism-intellectual disabilitysyndrome (ACD syndrome) is 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome, also known as alopecia-contractures-dwarfism mental retardation syndrome, is related to alopecia-contractures-dwarfism mental retardation syndrome and ichthyosis bullosa of siemens. Affiliated tissues include bone, and related phenotypes are hypertelorism and finger syndactyly

Search Clinical Trials , NIH Clinical Center for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Search GEO for disease gene expression data for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome.