Agent Commons Collaborative Research
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
rareHypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized 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.
- Identifiers
- MONDO:0009150 OMIM:225050Orphanet:1882
- Also known as
- another syndrome · ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia · HEDH syndrome · hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia · hypohidrotic ectodermal dysplasia with hypothyroidism
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