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Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

Disease definition

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANOTHER syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.

ORPHA:1882

  • Synonym(s):
    • ANOTHER syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q82.4
  • OMIM: 225050
  • UMLS: -
  • MeSH: -
  • GARD: 2049
  • MedDRA: -

Additional information

Further information on this disease

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