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alopecia - contractures - dwarfism - intellectual disability syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Alopecia-contractures-dwarfism-intellectual disability syndrome (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.
Mondo Term and Equivalent IDs
MONDO:0008754:  alopecia - contractures - dwarfism - intellectual disability syndrome
GARD:0000605: 
MESH:C537051: 
Orphanet:1005: 
UMLS:C0795895: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found