Orphanet: Alopecia contractures dwarfism intellectual disability syndrome
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Alopecia-contractures-dwarfism-intellectual disability syndrome

Disease 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.

ORPHA:1005

Classification level: Disorder
  • 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: -

  A summary on this disease is available in Deutsch (2005) Español (2014) Français (2014) Italiano (2014) Nederlands (2014)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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