This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Brachydactyly type E is a genetic disorder that causes some of the bones of the hands or feet to be shorter than expected. Other signs of the disorder may include having very flexible joints (hyperextensibility) in the hands and being shorter than family members who do not have the disorder (short stature). Brachydactyly type E can be isolated or syndromic. If the disorder is isolated, it means that the person does not have any other health problems or symptoms related to having brachydactyly type E. If brachydactyly type E is syndromic, it means a person has another genetic disease or health issue that includes the shortening of the hand and feet bones as one of its symptoms.
Isolated brachydactyly type E is caused by genetic changes (pathogenic variants or mutations) in the HOXD13 gene. Pathogenic variants in the the PTHLH gene may also cause brachydactyly type E associated with short height. In both of these cases, the disorder is inherited in an autosomal dominant manner. Other genetic changes are known to cause syndromes that include brachydactyly type E as a symptom. In these cases, the inheritance pattern depends on the underlying syndrome. Brachydactyly type E can be diagnosed if a doctor notices very flexible joints of the hands and shortening of the bones in the hands or feet. Genetic testing may be used to rule out genetic syndromes associated with brachydactyly. If brachydactyly type E is isolated and is not causing other physical or health problems, treatment may not be necessary.
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