Alopecia-contractures-dwarfism-intellectual disability syndrome
Alternate names
Alopecia-contractures-dwarfism intellectual disabilitysyndrome
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.
NIH genetic and rare disease info
Alopecia-contractures-dwarfism-intellectual disability syndrome is a rare disease.
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