Nager acrofacial dysostosis

Nager acrofacial dysostosis (NAD) is an inherited disorder of facial, limb, and skeletal morphogenesis. The disorder was recognised as a specific entity by Nager and de Reynier in 1948, but was probably first reported by Slingenberg in 1908. We present a summary of 76 previously reported cases with the addition of two new cases. In some families, NAD is inherited as a pleiotropic autosomal dominant condition with markedly variable penetrance and expressivity. However, the occurrence of affected sibs with normal parents suggests potential genetic heterogeneity and an additional autosomal recessive form.