Baughman syndrome

Overview

Curly hair-ankyloblepharon-nail dysplasia syndrome (CHANDS) is an extremely rare genetic disorder. The syndrome affects the outer layer (ectoderm) of a developing fetus. As a result, eyes, skin, nails, and hair may be underdeveloped or malformed. Also referred to as Baughman syndrome, less than five cases are reported to exist.1

Symptoms

* Curly hair * Fused eyelids * Thin nails * Ataxia * Thick nails

Causes

* Baughman syndrome * Berardinelli-Seip congenital lipodystrophy * Berardinelli-Seip congenital lipodystrophy, type 1 * Berardinelli-Seip congenital lipodystrophy, type 2 * Cardiofaciocutaneous Syndrome * Chromosome 8p inverted duplication syndrome * Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism * Cortes-Lacassie syndrome