Ectrodactyly

From Wikipedia, the free encyclopedia

This article or section does not adequately cite its references or sources.
Please help improve this article by adding citations to reliable sources. (help, get involved!)
Any material not supported by sources may be challenged and removed at any time. This article has been tagged since February 2007.

Ectrodactyly, commonly known as lobster claw syndrome ^[1], sometimes known as Karsch-Neugebauer syndrome, is a rare congenital deformity of the hand where the middle digit is missing, and the hand is cleft where the metacarpal of the finger should be. This split gives the hands the appearance of lobster claws. Ectrodactyly may also be known as "lobster claw hand", "split hand deformity", "split hand/foot malformation (SHFM)", "cleft hand", "ectrodactilia of the hand" or "Karsch-Neugebauer syndrome".

Ectrodactyly is an inherited condition, and often occurs in both the hands and the feet. Its inheritance pattern is autosomal dominant. It affects about 1 in 90,000 babies, with males and females equally likely to be affected. It is treated surgically to improve function and appearance. Prosthetics may also be used, and genetic counselling given to parents with the condition.

There are different forms of the disorder and each of them are connected with a different genetic mutation. Type I, the most frequent form has been found to be a mutation on chromosome 7 in a region that contains two homeobox genes, DLX5 and DLX6.^[2]

[edit] Famous people with ectrodactyly

Vadoma^{[citation needed]}
Bree Walker^[3] - News anchor for 20 years KCBS news in Los Angeles; actress on HBO drama Carnivale. She also appears in the fourth season premiere of FX's Nip/Tuck playing a real estate agent counseling parents expecting a child with ectrodactyly. Also appeared, along with her 2 children who also suffer from Ectrodactyly, on an episode of "My Unique Family" on The Learning Channel.
Grady Stiles^{[citation needed]}