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Alopecia-contractures-dwarfism-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.
ORPHA:1005Classification level: Disorder
A summary on this disease is available in Deutsch (2005) Español (2014) Français (2014) Italiano (2014) Nederlands (2014)
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