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
Alerts and Notices
Important News & Links
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
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
To perform a comparison, select diagnoses from the classic differential
Subscription Required
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:08/27/2020
Last Updated:01/12/2022
Last Updated:01/12/2022
Curly hair-ankyloblepharon-nail dysplasia syndrome