Nager syndrome

Nager syndrome (or acrofacial dysostosis) is an extremely rare congenital defect that has only had around 90 documented cases to date (02/06/07). Only 25 or so of these people survive. With 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 and/or stomach reflux, hammer toes, shortened soft palate, petite, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow. It is rare for sufferers to develop vertrebral anomalies and sufferers do not usually have problems with their reproductive organs. Usually sufferers have "normal" levels of intellect and lead productive lives.

Inheritance pattern said to be autosomal but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be sporadic. It is unknown whether someone with Nager syndrome can have surviving children.

Nager syndrome is also linked to five other similar syndromes: Miller Syndrome, Treacher-Collins, Pierre-Robin, Genee-Wiedemann, and Franceschetti-Zwahlen-Klein.