Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
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.

Codes

ICD10CM:
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
Copyright © 2024 VisualDx®. All rights reserved.
Curly hair-ankyloblepharon-nail dysplasia syndrome
Print  
A medical illustration showing key findings of Curly hair-ankyloblepharon-nail dysplasia syndrome
Copyright © 2024 VisualDx®. All rights reserved.