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OMIM 225300
DiseasesDB 32141

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List of terms related to 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]


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.[4] 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.


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 "Lobster Boy" Stiles


  1. "Medical Mystery: Ectrodactyly". ABC News. 2007-01-27. Check date values in: |date= (help)
  2. Karsch, J. Erbliche Augenmissbildung in Verbindung mit Spalthand und -fuss. Z. Augenheilk. 89: 274-279, 1936.
  3. Neugebauer H (1962). "Split hand and foot with familial occurrence". Zeitschrift für Orthopädie und ihre Grenzgebiete (in German). 95: 500–6. PMID 14479171.
  4. "Causative gene for human "lobster claw" syndrome identified". Retrieved 2007-07-01.
  5. " - Embracing her 'inner freak'". Retrieved 2007-07-01.

External links

de:Ektrodaktylie it:Ectrodattilia


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