Split hand foot malformation
Alternate names[edit | edit source]
SHFM; Ectrodactyly
Definition[edit | edit source]
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.
Summary[edit | edit source]
- 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.
- The severity of this condition varies widely among affected individuals.
Forms[edit | edit source]
- 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 (mutations) in the TP63 gene cause SHFM4.
- SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene.
Cause[edit | edit source]
- Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome.
- Researchers believe that a large number of mutations can cause split hand foot malformation.
- A few of which have been identified: FBXW4 and TP63.
- Most commonly the conditions are passed through families in an autosomal dominant fashion with reduced penetrance.
- In autosomal dominant inheritance an affected parent would have a 1 in 2 or 50% chance with each pregnancy of passing the genetic defect to his/her offspring.
- In conditions with “reduced penetrance” a person who inherits the underlying genetic defect, may never develop the condition.
Inheritance[edit | edit source]
SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
30%-79% of people have these symptoms
- Finger syndactyly
5%-29% of people have these symptoms
- Absent hand
- Aniridia(Absent iris)
- Sensorineural hearing impairment
- Split hand(Claw hand)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Split hand foot malformation is a rare disease.
Split hand foot malformation Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju