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.
References in periodicals archive ?
Willow was born with a lifethreatening condition called central hypoventilation and Nager Syndrome, which means that her cheek and jaw are undeveloped.
Lucy was suffering from what doctors believe was the extremely rare Nager Syndrome, a condition affecting the development of the face, airway and limbs.
Among the young patients was 14-month-old Jake Roberts who is one of only 80 people in the world to have Nager Syndrome.
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Eight-month-old Jake Roberts, of Jarrow, has had surgery after being born with the rare Nager syndrome, which left him with holes in the heart, breathing problems, a cleft palate and an underdeveloped right arm, fingers and ears.
Jake suffers from an extremely rare condition called Nager syndrome and was born with two holes in his heart, an underdeveloped right arm, fingers and ears and a cleft palate.