Nager acrofacial dysostosis (NAD) is a rare disorder that primarily affects the face and distal upper extremity but which also can be associated with a number of congenital defects.
Gene: AFD1
Location: 9q32
Inheritance may be autosomal dominant or autosomal recessive.
Facial defects include:
(1) mandibulofacial dysostosis
(1a) mandibular hypoplasia with micrognathia
(1b) malar hypoplasia
(1c) facial clefting
(2) retroplaced tongue
(3) other defects of palate (high-arched palate, absent soft palate)
(4) downward slanting palpebral fissures
(5) absent eyelashes in the medial third of the lower eyelid
(6) dysplastic external ears and/or low set ears
(7) atresia of the external auditory canal
(8) conductive deafness
(9) variable coloboma of the eyelids
(10) high nasal bridge
(11) variable extension of hair onto cheek
Other defects:
(1) defects in the distal upper extremity (thumb hypoplasia/aplasia, radial defects including absence of the radial bone, proximal radioulnar synostosis)
(2) variable defects in the CNS (microcephaly, aqueductal stenosis, polymicrogyria)
(3) variable defects in the cardiovascular system (tetralogy of Fallot, VSD, subvalvular muscular obstruction of the right ventricular outflow tract)
(4) variable defects in the gastrointestinal tract (gastroschisis)
(5) variable defects in the genitourinary system (vesicoureteral reflux, unilateral renal agenesis, duplicated ureter, external genital hypoplasia)
(6) variable short stature
(7) variable skeletal defects (vertebrae, ribs, other)
The patient may have a difficult airway for anesthesia.
