Brachydactyly

Brachydactyly Type E:

The brachydactyly type e is a rare condition where the bones are not connected properly. There are only two types of brachycephaly, one being type e and the other being type f.

In both cases there is no fusion between the skull and the brain. Usually these children have some problems with their breathing or swallowing due to lack of air passage through their nose and mouth. They usually need special care during birth because they cannot breathe normally. Their life expectancy is shorter than normal children.

Brachydactyly Type F:

In brachycephaly type f, the bones do not fuse together properly and the child’s head does not fit into its body correctly. Children with this condition may suffer from a wide range of physical abnormalities such as short stature, low muscle tone, abnormal bone growth patterns and other health issues related to their condition.

These children often require extra medical attention.

Brachydactyly Type C:

Children with brachycephaly type c may develop problems when they grow up. They may experience developmental delays, learning disabilities, and behavioral difficulties.

The most common problem encountered is speech impediments which can result in them having difficulty communicating with others. Other health concerns include heart defects, hearing loss and vision impairment.

Brachydactyly Syndrome:

The brachydactyly syndrome is a rare condition which has not been extensively researched. The only information available about this condition is that it causes abnormalities in the hand or foot.

Changes in the fingers or toes may be shorter than normal or abnormally longer than normal. These changes make it difficult for a child to move their hands and feet in a normal way. Children who have this condition experience frequent pain and discomfort.

Brachydactyly Treatment:

There is no cure for brachycephaly but there are some things which can help improve the symptoms. For the type e condition surgery is the only treatment that can help correct the problem.

Children with this condition may also need to wear special appliances on their hands and feet as well as having physical therapy and use of specialist equipment.

Sources & references used in this article:

Brachydactyly by SA Temtamy, MS Aglan – Orphanet journal of rare diseases, 2008 – Springer

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1 by B Gao, J Guo, C She, A Shu, M Yang, Z Tan, X Yang… – Nature …, 2001 – nature.com

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems by SR Williams, MA Aldred, VM Der Kaloustian… – The American Journal of …, 2010 – Elsevier