Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia

Disease Overview

Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia.[5117] These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner.[5117] Treatment is generally symptomatic and supportive.

Synonyms

• HEDH syndrome
• Hypohidrotic ectodermal dysplasia with hypothyroidism
• Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia
• Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
• ANOTHER syndrome