Curly hair-ankyloblepharon-nail dysplasia syndrome
Homozygous mutations in RIPK4 have been shown to cause CHANDS. Most cases reported in the literature occur in consanguineous kindreds.
Q89.7 – Multiple congenital malformations, not elsewhere classified
239037001 – Curly hair, ankyloblepharon, nail dysplasia syndrome
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.