Alopecia-contractures-dwarfism-intellectual disability syndrome

Orpha code: 1005OMIM code: 203550

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.

Disease data
Classification

Malformation syndrome

Synonyms
ACD-intellectual disability syndrome
ORPHA code
1005
OMIM code
203550
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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