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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Differential Diagnosis & Pitfalls
- Bartsocas‐Papas syndrome: Cleft lip / palate, popliteal pterygia, and often lethal; may represent severe form of CHANDS as it is also caused by homozygous mutations in RIPK4.
- Ankyloblepharon‐ectodermal defects‐cleft lip / palate (AEC) syndrome: Cleft lip / palate, scalp erosions, and limb anomalies; family history and lack of consanguinity due to autosomal dominant inheritance pattern.
- Ectrodactyly-ectodermal dysplasia-cleft lip / palate (EEC) syndrome: Cleft lip / palate and limb anomalies; family history and lack of consanguinity due to autosomal dominant inheritance pattern.
- Other syndromes with curly hair include tricho-dento-osseous syndrome, Noonan syndrome, and Costello syndrome.
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Last Reviewed:08/27/2020
Last Updated:01/12/2022
Last Updated:01/12/2022