Ectrodactyly
From Wikipedia, the free encyclopedia
| Ectrodactyly | |
| Classification and external resources | |
| ICD-10 | Q71.6 |
|---|---|
| ICD-9 | 755.4 |
| OMIM | 225300 |
| DiseasesDB | 32141 |
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 is an autosomal dominant disorder.
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[2] and H. Neugebauer.[3]
 Ectrodactyly on the right hand of a one-month old child |
 Ectrodactyly on the right foot of a one-month old child |
 Ectrodactyly on both feet of a one-year old child |
 Ectrodactyly on the hand of a one-year old child |
[edit] Famous people with ectrodactyly
- Vadoma
- Bree Walker[4] - 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 two children who also have Ectrodactyly, on an episode of "My Unique Family" on The Learning Channel.
- Grady "Lobster Boy" Stiles
- Eric, played by Bjorn Almroth in the Swedish film Ett Hål i Mitt Hjärta (A Hole in my Heart).
- Mikhail Tal, chess World Champion
[edit] References
- ^ "Medical Mystery: Ectrodactyly". ABC News. 2007-01-27. http://abcnews.go.com/Health/story?id=2832319&page=1&CMP=OTC-RSSFeeds0312.
- ^ Karsch, J. Erbliche Augenmissbildung in Verbindung mit Spalthand und -fuss. Z. Augenheilk. 89: 274-279, 1936.
- ^ Neugebauer H (1962). "Split hand and foot with familial occurrence" (in German). Zeitschrift für Orthopädie und ihre Grenzgebiete 95: 500–6. PMID 14479171.
- ^ "USATODAY.com - Embracing her 'inner freak'". http://www.usatoday.com/life/television/news/2005-02-16-bree-walker_x.htm. Retrieved on 2007-07-01.
[edit] External links
- Online 'Mendelian Inheritance in Man' (OMIM) 183600
- Online 'Mendelian Inheritance in Man' (OMIM) 183800
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