Breast fingernail syndrome Q87.2

The mammary fingernail syndrome (ORPHA238744) is an autosomal-dominantly inherited syndromal malformation of the limbs characterized by congenital onychodystrophy/anonychia, brachydactyly of the little finger, "digitalization" of the thumb and missing or hypoplastic end phalanges of the hands and feet. Furthermore, juvenile hypertrophy of the breast and gigantomasty in peripubertal girls have been described.

Newborn period, infancy

1. Genzer-Nir M et al (2010) Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosomes 22q12.3-13.1 Eur J Hum Genet 18: 662-67