/alopecia - contractures - dwarfism - intellectual disability syndrome

alopecia - contractures - dwarfism - intellectual disability syndrome

Rare Disease

MONDO:0008754

Also Known As

ACD-intellectual disability syndromeACD intellectual disability syndromeACD mental retardation syndromealopecia-contractures-dwarfism intellectual disability syndromealopecia-contractures-dwarfism mental retardation syndrome

Definition

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.