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Curly hair-ankyloblepharon-nail dysplasia syndrome
Other Resources UpToDate PubMed

Curly hair-ankyloblepharon-nail dysplasia syndrome

Contributors: Mack Su, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Curly hair-ankyloblepharon-nail dysplasia syndrome (CHANDS) is a rare autosomal recessive disorder characterized by the 3 main clinical features that make up the syndrome's name. The scalp hair is sparse and woolly. Other clinical features reported in CHANDS include oral frenula abnormalities and lip pits.

Homozygous mutations in RIPK4 have been shown to cause CHANDS. Most cases reported in the literature occur in consanguineous kindreds.

For more information, see OMIM.

Codes

ICD10CM:
Q89.7 – Multiple congenital malformations, not elsewhere classified

SNOMEDCT:
239037001 – Curly hair, ankyloblepharon, nail dysplasia syndrome

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Last Reviewed: 08/28/2020
Last Updated: 09/03/2020
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Curly hair-ankyloblepharon-nail dysplasia syndrome
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Curly hair-ankyloblepharon-nail dysplasia syndrome
Copyright © 2020 VisualDx®. All rights reserved.