Science 10 - Honours

Mendelian Genetics – Ectrodactyly

Ectrodactyly is an inherited genetic congenital disorder which involves the deficiency or absence of one or more central digits of the hand or foot. This disorder is also known as split hand/foot malformation or cleft hand/foot. The most common mode of inheritance of this disorder is autosomal dominant with reduced penetrance. In this case, the affected parent has a 50% chance of passing on this disorder with each pregnancy. Autosomal recessive and X-linked forms are other ways of inheriting this phenotype but they occur much more rarely. After detailed studies on mice, the conclusion has been made that the cause for this disorder is a failure to maintain median apical ectodermal ridge signalling can be the main part in triggering this abnormality. There is no way to be able to control whether or not you are passing on the ectrodactyly gene to your children however, this disorder can be treated surgically  later on in the individuals life in order to improve function and appearance.

Sources:

https://en.wikipedia.org/wiki/Ectrodactyly

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922631/

https://rarediseases.info.nih.gov/diseases/6319/split-hand-foot-malformation

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