Congenital Anonychia: Cooks Syndrome Variant or New Disease?

Cooks syndrome, which was first reported by Cooks et al in 1985 is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of the fifth finger of the hands and complete absence of toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a “rare disease”. We present an 18 month old infant with history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. X-ray showed no abnormalities in phalanges, which is possibly a variant of Cooks Syndrome or a new disease with a strong family history of similar deformities involving the mother, grandmother, and sister.