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Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia

Orpha number ORPHA1882
Synonym(s) ANOTHER syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

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.


Last update: October 2006

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