Ectrodactyly
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| Ectrodactyly Classification and external resources | |
| OMIM | 225300 |
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| DiseasesDB | 32141 |
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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", after J. Karsch[1] and H. Neugebauer .[1]
Genetics
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.[1] Both are near SHFM1 ("split hand/foot malformation type 1").
Ectrodactyly is an inherited dysmelia, 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.
Ectrodactylia may not be isolated and may exist in certain syndromes. EEC ie Ectrodactyly-ectodermal dysplasia-cleft syndrome happens due to a mutation in p63 a homologue of the famous p53.
Treatment
It is treated surgically to improve function and appearance. Prosthetics may also be used, and genetic counselling given to parents with the condition.
Famous people with ectrodactyly
- Vadoma
- Bree Walker[1] - News anchor for 20 years KCBS news in Los Angeles; actress on HBO drama Carnivàle. 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 "Lobster Boy" Stiles
References
External links
- WTF WEAR!: An entire population of people with Ostrich Feet(ectrodactyly)!. Retrieved on 2007-07-01. at Blogspot
- Online 'Mendelian Inheritance in Man' (OMIM) 183600
- Online 'Mendelian Inheritance in Man' (OMIM) 183800de:Ektrodaktylie
fr:Ectrodactylie it:Ectrodattilia
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
