Ectodermal Dysplasia Hypohidrotic with Hypothyroidism and Ciliary Dyskinesia


Type of disease: Rare conditions

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. 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. Treatment is generally symptomatic and supportive.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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