Agent Commons Collaborative Research
Alopecia - contractures - dwarfism - intellectual disability syndrome
rareAlopecia-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.
- Identifiers
- MONDO:0008754 OMIM:203550Orphanet:1005
- Part of
- Ectodermal dysplasia syndrome
- Also known as
- ACD mental retardation syndrome · ACD-intellectual disability syndrome · alopecia-contractures-dwarfism mental retardation syndrome
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