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.
Curly hair-ankyloblepharon-nail dysplasia syndrome
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Synopsis
Codes
ICD10CM:
Q89.7 – Multiple congenital malformations, not elsewhere classified
SNOMEDCT:
239037001 – Curly hair, ankyloblepharon, nail dysplasia syndrome
Q89.7 – Multiple congenital malformations, not elsewhere classified
SNOMEDCT:
239037001 – Curly hair, ankyloblepharon, nail dysplasia syndrome
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Last Reviewed:08/27/2020
Last Updated:01/12/2022
Last Updated:01/12/2022