Acrofacial Dysostosis 1, Nager Type


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Acrofacial Dysostosis 1, Nager Type

A heterogeneous group of autosomal dominant disorders—globally termed Nager acrofacial dysostosis (NAFD)—characterised by defects of cranial neural crest and limb development; NAFD comprises two general groups of defects involving either the upper limbs or craniofacial defects in the form of mandibulofacial dysostosis.
Clinical findings The upper limb defects are characteristic, with radio-ulnar synostosis and triphalangeal thumbs and index finger; 5th fingers may be short and clinodactylic; absence of thumbs may be associated with distal hypoplasia or absence of radii with shortness and bowing of ulnae resulting in a radial club hand with or without antecubital webbing; phocomelia is rare. Mandibulofacial dysostosis is also highly characteristic, with downward slant of palpebral fissures, ptosis of upper lids, coloboma of lower lids, deficiency of eyelashes of the medial 1⁄3 to 2⁄3 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), and an extension of a “tongue” of temporal hair down the sides of the cheeks.