Alopecia-contractures-dwarfism-intellectual disability syndrome

From WikiMD's WELLNESSPEDIA

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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