Acrofacial dysostosis, Nager type (Q86224)

Nager acrofacial dysostosis (NAFD) is a form of acrofacial dysostosis that comprises two groups of defects involving respectively the limbs (hypoplasia or absence of thumbs, triphalangeal thumbs and index finger, radioulnar synostosis) and craniofacial region (downward slant of palpebral fissures, ptosis of upper lids, coloboma of lower lids, deficiency of eyelashes of the medial one-third to two-thirds of the lower eyelids, hypoplasia of the malar eminences and zygomata, hypoplasia of maxilla with cleft of secondary palate or highly-arched palate, absence of velum (rarely with choanal atresia), extension of a ``tongue'' of temporal hair down the sides of the cheeks).