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Learn About Split Hand Foot Malformation

What is the definition of Split Hand Foot Malformation?
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by genetic changes in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
What are the alternative names for Split Hand Foot Malformation?
  • Split hand foot malformation
  • Ectrodactyly
  • SHFM
Who are the top Split Hand Foot Malformation Local Doctors?
Elite in Split Hand Foot Malformation
Elite in Split Hand Foot Malformation
Rokietnicka 8 Street, 
Poznan, WP, PL 

Anna Seidler-Sowinska practices in Poznan, Poland. Ms. Seidler-Sowinska is rated as an Elite expert by MediFind in the treatment of Split Hand Foot Malformation. Her top areas of expertise are Split Hand Foot Malformation, Hartsfield Syndrome, Jackson-Weiss Syndrome, and Acromicric Dysplasia.

Richard C. Trembath
Distinguished in Split Hand Foot Malformation
Distinguished in Split Hand Foot Malformation
London, ENG, GB 

Richard Trembath practices in London, United Kingdom. Mr. Trembath is rated as a Distinguished expert by MediFind in the treatment of Split Hand Foot Malformation. His top areas of expertise are Aplasia Cutis Congenita, Ectodermal Dysplasias, Clouston Syndrome, and Split Hand Foot Malformation.

 
 
 
 
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Distinguished in Split Hand Foot Malformation
Distinguished in Split Hand Foot Malformation
St. George's University Of London, 
London, ENG, GB 

Laura Southgate practices in London, United Kingdom. Ms. Southgate is rated as a Distinguished expert by MediFind in the treatment of Split Hand Foot Malformation. Her top areas of expertise are Aplasia Cutis Congenita, Clouston Syndrome, Ectodermal Dysplasias, and Split Hand Foot Malformation.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center