- 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 survived. With several or all of the following characteristics: underdevelopment of thecheek andjaw area, down-sloping of the opening of theeye s, lack or absence of the lowereyelashes , kidney and/or stomach reflux,hammer toe s, shortenedsoft palate , petite, lack of development of the internal and externalear , possiblecleft palate , underdevelopment or absence of thethumb ,hearing loss (seehearing loss with craniofacial syndromes ) and shortenedforearm s, 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.
External links
* [http://www.fnms.net Nager and Miller syndromes]
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