Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

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Synonyms: ANOTHER syndrome | HEDH syndrome

A rare genetic ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation increased mast cells and melanin depositions in the dermis and severe recurrent chest infections. There have been no further descriptions in the literature since 1986.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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