Tetraamelia Syndrome

In medicine, it is called autosomal recessive tetraamelia or tetraamelia syndrome, a rare congenital disease (present at birth) that is characterized by the existence of multiple malformations, including the absence of four limbs. There may be other malformations that affect the head, eye, lung, genital and urinary tract. The disease is inherited according to an autosomal recessive pattern in most cases. A mutation has been detected that causes the disease to be located in the WNT3 gene located on chromosome 17 (17q21), which encodes a protein whose function is crucial for the development of the limbs in the embryonic stage. p>

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