Nager acrofacial dysostosis
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss and shortened forearms, as well as poor movement in the elbow, and may be characterized by accessory tragi. Occasionally, affected individuals develop vertebral anomalies such as scoliosis.
The inheritance pattern is autosomal, but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be sporadic. Nager syndrome shares many characteristics with five other craniofacial syndromes: Miller, Treacher Collins, Pierre Robin, Genee–Wiedemann and Franceschetti–Zwahlen–Klein.Genetics
Nager syndrome is thought to be caused by haploinsufficiency of the spliceosomal factor SF3B4.Diagnosis
Treatment
