Brachydactyly type E

What causes brachydactyly type E?

Brachydactyly type E can be isolated or syndromic. Syndromic means there are other physical differences or health problems present due to the same genetic change. In these cases, there may be an underlying genetic syndrome that is causing the shortened hands and feet and other health problems.

When brachydactyly type E is isolated, meaning a person has shortened bones in the hands and feet but no other physical differences or related health problems, it may be caused by genetic changes (pathogenic variants or mutations) in HOXD13 gene. Pathogenic variants in the the PTHLHgene can also cause brachydactyly type E. Changes in this gene are also usually associated with short height and in some cases learning disabilities and problems with teeth. __Both of these genes provide instructions for proteins that help control bone growth.

It is thought that there may be other genes in which pathogenic variants cause isolated brachydactyly type E with or without short stature. This is because some people with isolated brachydactyly type E with or without short stature do not have pathogenic variants in the PTHLH or HOXD13 genes.

Last updated on 05-01-20

How is brachydactyly type E diagnosed?

Brachydactyly type E may be diagnosed when a doctor finds that a baby, child, or adult has shorter hands and feet than expected and also has very flexible (hyperextensible) joints in the hands. In some cases, a doctor may order x-rays of the hands and feet to confirm the diagnosis. A doctor may also take a thorough medical and family history and perform a physical exam and other tests to determine if there are any other health problems or physical differences that may be related to a genetic syndrome. In some cases, genetic testing may be used to confirm if the disorder is isolated or associated with another genetic syndrome.

Last updated on 05-01-20

Is brachydactyly type E inherited?

When caused by pathogenic variants in the PTHLH or HOXD13 gene, brachydactyly type E is inherited in an autosomal dominant manner. Like most genes, the PTHLH or HOXD13 _genes come in a pair (two copies of each gene). One copy of the genes is inherited from each parent. When a syndrome is inherited in an autosomal dominant manner, a person must have a pathogenic variant in only one copy of the gene to have the disorder. When a person with a pathogenic variants in either the _PTHLH or HOXD13 gene has children, for each child there is a:

  • 50% chance to inherit the change in the PTHLH or HOXD13 gene, meaning the child will have brachydactyly type E
  • 50% chance to inherit the working copy of the PTHLH or HOXD13 gene, meaning the child will not have brachydactyly type E

If a person has brachydactyly type E and other related physical or health problems, the underlying genetic syndrome may be inherited in a different pattern.

Last updated on 05-01-20

What is the long-term outlook for people with brachydactyly type E?

Most people who only have brachydactyly type E without any other health or physical problems do not find their quality of life affected very much by having smaller hands and feet, as long as they have full use of their hands and feet. If brachydactyly type E is caused by an underlying genetic syndrome, the long-term outlook can vary depending on the underlying syndrome.

Last updated on 05-01-20


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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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