Nager acrofacial dysostosis

Nager acrofacial dysostosis is a congenital anomaly syndrome.

Nager Syndrome 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 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, and may be characterized by accessory tragi.[1] Occasionally sufferers develop vertebral anomalies such as scoliosis and sufferers do not usually have problems with their reproductive organs. 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. Nager syndrome is also linked to five other similar syndromes: Miller syndrome, Treacher-Collins, Pierre-Robin, Genee-Wiedemann, and Franceschetti-Zwahlen-Klein.

"An extremely rare congenital defect that has only had 75 documented cases to date (11/17/1999). 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, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, and shortened forearms, as well as poor movement in the elbow."

Genetics

In 2012, Canadian researchers demonstrated Nager syndrome to be caused by haploinsufficiency of the spliceosomal factor SF3B4.[2]

See also

References

  1. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
  2. ↑ Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS (Apr 26, 2012). "Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome.". American Journal of Human Genetics. 90 (5): 925–33. doi:10.1016/j.ajhg.2012.04.004. PMID 22541558.


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