Ectrodactyly, sometimes referred to as the “Lobster-Claw Syndrome”[1] 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).[2] The hands and feet of people with ectrodactyly 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.[3]

Classification and external resources
ICD-10 Q71.6
ICD-9 755.4
OMIM 225300
DiseasesDB 32141



A large number of human gene defects can cause ectrodactyly. The most common mode of inheritance is autosomal dominant with reduced penetrance, while autosomal recessive and X-linked forms occur more rarely.[4] Ectrodactyly can also be caused by deletions, translocations, and inversions in chromosome 7 (7q).[5] The deletions in 7q can result in a contiguous gene syndrome that includes growth impairment, microcephaly, craniofacial manifestations, hernias, hearing loss, and mental retardation.[5] Translocations in 7q do not have as many abnormalities but are generally associated with most hearing loss cases.[5] This is why most cases of ectrodactyly are generally accompanied by another abnormality or linked to another syndrome (ex. EEC, LMS, ECP).[6] Detailed studies of a number of mouse models for ectrodactyly have also revealed that a failure to maintain median apical ectodermal ridge (AER) signalling can be the main pathogenic mechanism in triggering this abnormality.[4] A number of factors make the identification of the genetic defects underlying human ectrodactyly a complicated process: the limited number of families linked to each split hand/foot malformation (SHFM) locus, the large number of morphogens involved in limb development, the complex interactions between these morphogens, the involvement of modifier genes, and the presumed involvement of multiple gene or long-range regulatory elements in some cases of ectrodactyly.[4] In the clinical setting these genetic characteristics can become problematic and making predictions of carrier status and severity of the disease impossible to predict.[7]

Hearing loss

As mentioned in the Genetics section, ectrodactyly can be caused by various changes to 7q. When 7q is altered by a deletion or a translocation ectrodactyly can sometimes be associated with hearing loss.[5] Ectrodactyly, or Split hand/split foot malformation (SHFM) type 1 is the only form of split hand/ malformation associated with sensorineural hearing loss.[5]


The functional utility of the malformed limbs is discussed in issue 2481 of The British Medical Journal.[8] The affected persons can perform work that requires skillful manipulation, regardless of their handicap. The article says, “The needlework of some of the females is good; the handwriting of most is excellent. One individual is a boot maker, two others drive cabs, none finding difficulty in clothing themselves, and most do so with extraordinary rapidity, even to the lacing of boots....It is said of one that he is able in this way to lift pins from the floor with his feet.” Those with ectrodactyly are contributing members of society with their own jobs and careers;[1] many choose to have families and raise children.[1] In most daily tasks the health condition appears to have a small effect on their functionality. In 2006, the London Tate exhibition Single Shot featured a video of an unidentified person with ectrodactyly skillfully playing the piano with only four fingers.[9]

Ectrodactyly in species other than humans

Ectrodactyly is not only a genetic characteristic in humans, but can also occur in frogs and toads,[10] mice,[11] salamanders,[12] cows,[4] chickens,[4] rabbits,[4] marmosets,[4] cats and dogs,[13] and even West Indian manatees.[4] The following examples are studies showing the natural occurrence of ectrodactyly in animals, without the disease being reproduced and tested in a laboratory. In all three examples we see how rare the actual occurrence of ectrodactyly is.

Wood Frog

The Department of Biological Sciences at the University of Alberta in Edmonton, Alberta performed a study to estimate deformity levels in Wood Frogs in areas of relatively low disturbance.[10] After roughly 22,733 individuals were examined during field studies, it was found that only 49 Wood Frogs had the ectrodactyly deformity.[10]


In a study performed by the Department of Forestry and Natural Resources at Purdue University, approximately 2000 salamanders (687 adults and 1259 larvae) were captured from a large wetland complex and evaluated for malformations.[12] Among the 687 adults, 54 (7.9%) were malformed. Of these 54 adults, 46 (85%) had missing (ectrodactyly), extra (polyphalangy) or dwarfed digits (brachydactyly).[12] Among the 1259 larvae, 102 were malformed, with 94 (92%) of the malformations involving ectrodactyly, polyphalangy, and brachydactyly.[12] Results showed few differences in the frequency of malformations among life-history changes, suggesting that malformed larvae do not suffer substantially higher mortality than their adult conspecifics.[12]

Cats and dogs

In a “Journal of Heredity” published by the Oxford Journals a study was performed to test allele frequencies in domestic cats. Among the 265 cats observed, there were 101 males and 164 females. Only one cat was recorded to have the ectrodactyly abnormality,[14] illustrating this rare and unique disease. According to M.P. Ferreira, a case of ectrodactyly was found in a two month old male mixed Terrier dog.[15] In another study, Carrig and co-workers also reported a series of 14 dogs[16] with this abnormality proving that although ectrodactyly is an uncommon occurrence for dogs, it is not entirely unheard of.

Human genetic disorders

Ectrodactyly is frequently seen with other congenital anomalies, or other birth defects.[4] Syndromes in which ectrodactyly is associated with other abnormalities can occur when two or more genes are affected by a chromosomal rearrangement.[4] Disorders associated with ectrodactyly include Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome, which is closely correlated to the ADULT syndrome and Limb-mammary (LMS) syndrome, Ectrodactyly-Cleft Palate (ECP) syndrome, Ectrodactyly-Ectodermal Dysplasia-Macular Dystrophy syndrome, Ectrodactyly-Fibular Aplasia/Hypoplasia (EFA) syndrome, and Ectrodactyly-Polydactyly. More than 50 syndromes and associations involving ectrodactyly are distinguished in the London Dysmorphology Database.[6]

Notable people

  • Bree Walker[1] Once a popular television anchor woman in Los Angeles, she has appeared in the television drama “Nip/Tuck” as an inspirational character who battles her disease and counsels another family who have children with ectrodactyly.
  • Grady Stiles Sr. and Grady Stiles Jr.
  • Vadoma Tribe in Africa
  • Mikhail Tal, chess World Champion
  • Lord Lokhraed, guitarist and singer of french Black Metal band Nocturnal Depression, has ectrodactyly on his fretting hand
  • Mohammed Abdellaoue, Norwegian footballer who plays in Hannover96


See also


  1. ^ a b c d "Medical Mystery: Ectrodactyly". ABC News. January 27, 2007. 
  2. ^ 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. 
  3. ^ Peterson-Falzone, Sally J.; Hardin-Jones, Mary A.; Karnell, Michael P.; McWilliams, Betty Jane (2001). Cleft Palate Speech. Mosby. ISBN 9780815131533. 
  4. ^ a b c d e f g h i j Pascal, H.G. et al. (2003). "Pathogenesis of split-hand/split-foot malformation". Human Molecular Genetics 12 (1): R51–R60. doi:10.1093/hmg/ddg090. 
  5. ^ a b c d e Wieland, I., et al. (2004). "Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia". Journal of Medical Genetics 41 (5): e54. doi:10.1136/jmg.2003.010587. PMID 15121782. 
  6. ^ a b Winter, R.M.; Baraitser, M. (August 1987). "The London Dysmorphology Database". Journal of Medical Genetics 24: 509–510. doi:10.1136/jmg.24.8.509. 
  7. ^ Scherer, Stephen, et al.; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; Parker-Katiraee, L et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science 300 (5620): 767–772. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205. 
  8. ^ Lewis, Thomas (1908). "The Inheritance of Deformities". British Medical Journal 2 (2481): 166–173. doi:10.1136/bmj.2.2481.166. 
  9. ^
  10. ^ a b c Eaton, Brian R., et al.; Eaves, Sara; Stevens, Cameron; Puchniak, Allison; Paszkowski, Cynthia A. (2004). "Deformity Levels in Wild Populations of the Wood Frog (Rana sylvatica) in Three Ecoregions of Western Canada". Journal of Herpetology 38 (2): 283–287. doi:10.1670/95-03N. 
  11. ^ Manson, Jeanne; Dourson, Michael L.; Smith, Carl C. (1977). "Effects of Cytosine Arabinoside on In vivo and In vitro Mouse limb Development". In Vitro 13 (7): 434–442. doi:10.1007/BF02615104. 
  12. ^ a b c d e Williams, Rod; Bos, David; Gopurenko, David; DeWoody, Andrew (2008). "Amphibian Malformations and Inbreeding". Biology Letters 4 (5): 549–52. doi:10.1098/rsbl.2008.0233. PMC 2610075. PMID 18593670. 
  13. ^ Jezyk, P.F. (1985). Constitutional Disorders of the Skeleton in Dogs and Cats: Textbook of Small Animal Orthopedics. Ithaca, New York: International Veterinary Information Service. 
  14. ^ Davis, Brian; Davis, Barry (1977). "Allele frequencies in a cat population in Budapest". Journal of Heredity 68: 31–34. 
  15. ^ Ferreira, M.P. et al.; Alievi, M.M.; Beck, C.A.C.; Voll, J.; Muccillo, M.S.; Gomes, C. (2007). "Ectrodactilia em cão: relato de caso". Arquivo Brasileiro de Medicina Veterinária e Zootecnia 59 (4): 910–913. doi:10.1590/S0102-09352007000400015. 
  16. ^ Carrig, CB; Wortman, JA; Morris, EL et al; Blevins, Williame.; Root, Charlesr.; Hanlon, Griseldaf.; Suter, Peterf. (19 May 2005). "Ectrodactyly (split-hand deformity) in the dog". Veterinary Radiology & Ultrasound 22 (3): 123–144. doi:10.1111/j.1740-8261.1981.tb01363.x. 

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Look at other dictionaries:

  • ectrodactyly — ectrodactyly. См. эктродактилия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Ectrodactyly — The congenital absence of all or part of one or more fingers or toes. The term ectrodactyly has been applied to a variety of malformations of the fingers or toes. It is probably best reserved for: {{}}transverse terminal aphalangia (absence of… …   Medical dictionary

  • Ectrodactyly-ectodermal dysplasia-cleft syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 34402 ICD10 = ICD9 = ICDO = OMIM = 129900 OMIM mult = OMIM2|604292 | MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Ectrodactyly ectodermal dysplasia cleft syndrome, or EEC, is a… …   Wikipedia

  • ectrodactyly — n. congenital absence of fingers or toes (Medicine) …   English contemporary dictionary

  • ectrodactyly — ec·tro·dactyly …   English syllables

  • ectrodactyly — n. congenital absence of all or part of one or more fingers …   The new mediacal dictionary

  • ectrodactyly — noun congenital abnormality involving the absence of some fingers or toes • Hypernyms: ↑abnormality, ↑abnormalcy …   Useful english dictionary

  • ectrodactyly, ectrodactylia, ectrodactylism — Congenital absence of all or part of one or more fingers or toes. There are several varieties and the pattern of inheritance may be autosomal dominant with reduced penetrance [MIM*183600 and MIM*183802], autosomal recessive [MIM*225290 and… …   Medical dictionary

  • Эктродактилия — Ectrodactyly МКБ 10 Q …   Википедия

  • эктродактилия — ectrodactyly эктродактилия. Врожденное отсутствие отдельных пальцев на руках и (или) ногах; предполагается сцепление генетического фактора Э. с хромосомой 7 человека (наиболее вероятно сегмент q22.1). (Источник: «Англо русский толковый словарь… …   Молекулярная биология и генетика. Толковый словарь.

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