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Ectodermal dysplasia, hypohidrotic - hypothyroidism - ciliary dyskinesia

Orpha number ORPHA1882
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD 10 code -
MIM number
Synonym(s) ANOTHER syndrome

Summary

This 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. *Author: Orphanet (October 2006)*.

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