Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

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SNOMED-CT via HPO 70 111266001 157265008 194021007 199612005 205455005 22006008 22033007 237836003 237837007 246799009 249311009 249769001 268251006 26996000 271611007 275480001 278040002 34048007 396228006 399955009 414564002 422065006 43476002 45004005 48069004 56317004 57190000 64217002 69056000 700189007 84445001 more

UMLS 74 C0795895

NIH Rare Diseases : ⁵⁴ 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 kyphosis and joint stiffness

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.