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Ectrodactyly DefinitionQ. What is Ectrodactyly?
Ans. Ectrodactyly is a birth defect that causes malformation of the hands and/or feet. In this condition, the middle finger or middle toe is missing. As well, the two fingers or toes to the right and left of the missing finger are fused together. This has often led to ectrodactylyectrodactylyectrodactyly being called lobster claw hands, or lobster claw syndrome, because the hand malformation does bear some similarity in appearance to the claws of a lobster. GeneticsGenetics of Ectrodactyly
There are different forms of the disorder and each of them are connected with a different genetic mutation. Type I, the most frequent form has been found to be a mutation on chromosome 7 in a region that contains two homeobox genes, DLX5 and DLX6. Both are near SHFM1 ("split hand/foot malformation type 1"). Ectrodactyly is an inherited dysmelia, and often occurs in both the hands and the feet. Its inheritance pattern is autosomal dominant. It affects about 1 in 90,000 babies, with males and females equally likely to be affected. Ectrodactylia may not be isolated and may exist in certain syndromes. EEC ie Ectrodactyly-ectodermal dysplasia-cleft syndrome happens due to a mutation in p63 a homologue of the famous p53. TreatmentTreatment of Ectrodactyly
It is treated surgically to improve function and appearance. Prosthetics may also be used, and genetic counselling given to parents with the condition. Find a disease by its first letter
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