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Alopecia-contractures-dwarfism-intellectual disability syndrome

Disease 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.

ORPHA:1005

  • Synonym(s):
    • ACD-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 203550
  • UMLS: C0795895
  • MeSH: C537051
  • GARD: 605
  • MedDRA: -

Additional information

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