ECTRODACTYLY

'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^[2] and H. Neugebauer .^[3]

Contents

Genetics

Treatment

Famous people with ectrodactyly

References

External links

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, and .^[4] Both are near ("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^[5] - 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 Stiles

References

1. Medical Mystery: Ectrodactyly
2. Karsch, J. Erbliche Augenmissbildung in Verbindung mit Spalthand und -fuss. Z. Augenheilk. 89: 274-279, 1936.
3. Split hand and foot with familial occurrence., Neugebauer H, , , Zeitschrift für Orthopädie und ihre Grenzgebiete, 1962
4. Causative gene for human "lobster claw" syndrome identified
5. USATODAY.com - Embracing her 'inner freak'

External links

★ WTF WEAR!: An entire population of people with Ostrich Feet(ectrodactyly)! at Blogspot

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