Foot Deformity

Lobster claw syndrome. It is deficiency or absence of one or more central digits of the hand or foot {1}. It is also known as split hand or split foot malformation {SHFM} {1}. The hands and feet of people with ectrodactyly are often described as “Claw-like”. It is a relatively rare condition occurring about once in 90000 births {2}. It is inherited as autosomal dominant but may occur due to spontaneous mutation {2}. All features are variable. Skin is usually fair and thin with mild hyperkeratosis. Hairs are light colored, sparse and thin. Partial anodontia or microdontia can be seen. Eyes may show blue irides, blepharitis and dacrocystitis. Facial abnormalities include cleft lip with or without cleft palate. Limbs defects include midportion of hands and feet varying from syndactyly to ectrodactyly. Genitourinary defects include megaureter, renal agenesis, transverse vaginal septum and cryptorchidism {3,4}. Individuals are usually of normal intelligence. Early physical and occupational therapy can help adapt and learn to write, pick things up and be functional.

E-published: June 2011 Vol 8 Issue 6 Art # 37

References :

Medical Mystery: Ectrodactyly. ABC News. January 27, 2007. Moerman P, Fryns JP. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. Am J Med Genet. 1996; 63: 479-481 McWilliams BJ' Peterson F, Sally J, Hardin J, Mary A, Karnell MP. Cleft palate speech. St. Louis: Mosby. 2001 Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand, split-foot malformation. Hum Mol Genet. 2003; 12 Spec No 1:R51-60