Alopecia-contractures-dwarfism-intellectual disability syndrome

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Alopecia-contractures-dwarfism-intellectual disability syndrome

Synonyms: ACD-intellectual disability syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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