Ectrodactyly

This article is about the congenital disorder. For the neurological syndrome, see split hand syndrome.
Ectrodactyly
Ectrodactyly and syndactyly on the hand of a one-year-old child
SpecialtyMedical genetics Edit this on Wikidata

Ectrodactyly, split hand, or cleft hand[1] (from Ancient Greek ἔκτρωμα (ektroma) 'miscarriage' and δάκτυλος (daktylos) 'finger')[2] involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM).[3] The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.[4]

It is a substantial rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest.[5] The central ray of the hand is affected and usually appears without proximal deficiencies of nerves, vessels, tendons, muscles and bones in contrast to the radial and ulnar deficiencies. The cleft hand appears as a V-shaped cleft situated in the centre of the hand.[6] The digits at the borders of the cleft might be syndactilyzed, and one or more digits can be absent. In most types, the thumb, ring finger and little finger are the less affected parts of the hand.[7] The incidence of cleft hand varies from 1 in 90,000 to 1 in 10,000 births depending on the used classification. Cleft hand can appear unilateral or bilateral,[6] and can appear isolated or associated with a syndrome.

Split hand/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. SHFM is a heterogeneous condition caused by abnormalities at one of multiple loci, including SHFM1 (SHFM1 at 7q21-q22), SHFM2 (Xq26), SHFM3 (FBXW4/DACTYLIN at 10q24), SHFM4 (TP63 at 3q27), and SHFM5 (DLX1 and DLX 2 at 2q31). SHFM3 is unique in that it is caused by submicroscopic tandem chromosome duplications of FBXW4/DACTYLIN. SHFM3 is considered 'isolated' ectrodactyly and does not show a mutation of the tp63 gene.

  1. ^ Giele, Henk; Cassell, Oliver (2008). Plastic and Reconstructive Surgery. Oxford: Oxford University Press. p. 197. ISBN 978-0-19-263222-7.
  2. ^ Durowaye, Mathew; Adegboye, Abdulrasheed; Mokuolu, Olugbenga Ayodeji; Adeboye, Muhammed; Yahaya-Kongoila, Sefiyah; Adaje, Adeline; Adesiyun, Omotayo; Ernest, Samuel Kolade (2011). "Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report". Oman Medical Journal. 26 (4): 275–8. doi:10.5001/omj.2011.67. PMC 3191709. PMID 22043435.
  3. ^ Moerman, P.; Fryns, J.P. (1998). "Ectodermal dysplasia, Rapp–Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child". American Journal of Medical Genetics Part A. 63 (3): 479–81. doi:10.1002/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J. PMID 8737656.
  4. ^ Peterson-Falzone, Sally J.; Hardin-Jones, Mary A.; Karnell, Michael P.; McWilliams, Betty Jane (2001). Cleft Palate Speech. Mosby. ISBN 978-0-8151-3153-3.
  5. ^ Congenital Hand Deformities at eMedicine
  6. ^ a b Kay, Simon P.; McCombe, David (2005). "Central hand deficiencies". In Green, David P.; Hotchkiss, Robert N.; Pederson, William C.; et al. (eds.). Green's Operative Hand Surgery (5th ed.). Philadelphia: Elsevier/ Churchill Livingstone. pp. 1404–15. ISBN 978-0-443-06626-9.
  7. ^ Upton, Joseph; Taghinia, Amir H. (2010). "Correction of the Typical Cleft Hand". The Journal of Hand Surgery. 35 (3): 480–5. doi:10.1016/j.jhsa.2009.12.021. PMID 20138711.