Ectrodactyly: Split Hand Foot Malformation


Description:
Split Hand Foot Malformation causes malformations in the hands and feet. The leading type of this disease causes fusion of the fingers and toes which makes it seem like they are missing digits. Clefts are also common with this disease which may cause the hands to look like lobster claws which gave this disease the nickname “lobster claw syndrome.”

Inheritance:
Split Hand Foot Malformation is most commonly inherited through an autosomal dominant trait. This means that one parent has the disease and passes it on to their kids. There is a 50% chance of getting this disease. It is also less commonly inherited through an autosomal recessive trait, an X-liked trait, or through a mutation.


Symptoms:
Most symptoms of this disease are cause by other diseases commonly found with Ectrodactlyly. These symptoms include, growth impairment, mental retardation, hernias, craniofacial manifestations, and 35% of people will become deaf.


Daily Life:


Diagnosis:
When a baby is born, they are seen to be missing fingers or toes.



Treatment:
One of the most common treatments of this disease is surgery to correct the malformation. Toes may be used as replacements fingers that may be missing. If the person does not wish to have surgery then they live life with their hands or toes how they are. Most people chose not to be treated and live with the disesase.



Research:
Research is being done at top medical facilities to find out exactly what causes Split Hand Foot Malformation. The leading idea is because of the failure of a gene to continue activity. It seems to not complete its functions while a fetus is developing which in turn causes the baby to have missing or fused digits.




Additional Facts:
Ectrodactyly: Split Hand Foot Malformation is present in 1 in 90,000 individuals. This disease is found in chromosome 7. This disease is not restricted to any ethnical group, as anyone can get it. Split Hand Foot Malformation can also be found in animals. In humans, this disease is very common with other diseases as well.




Punnett Square:




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Pedigree Chart:
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Pictures:
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Resources:
These are great sites to find information on Split Hand/Foot Malformation

http://www.unmc.edu/geneticslab/467.htm
http://rarediseases.info.nih.gov/GARD/Condition/4968/Split_handfoot_malformation_Xlinked.aspx
http://en.wikipedia.org/wiki/Ectrodactyly