alopecia - contractures - dwarfism - intellectual disability syndrome
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:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019287
ectodermal dysplasia syndrome
is_a
ACD mental retardation syndrome
related
ACD-intellectual disability syndrome
exact
alopecia-contractures-dwarfism mental retardation syndrome
related