It is defined as a condition in which there is a multiple malformation of the systems and the mandibulo facial dysostosis and limb defects are more prominent. It is a rare and autosomal recessive in the nature. They show a poor prognosis.
There is a severe reduction of the limb, absence of thumbs, agenesis of corpus callosum and absence of the lung lobulation. One can also observe the micro retro gnathism and cleft palate. There is a absence of radius and ulna with a complete absence of the long bones of legs.
There is no specific treatment for this disorder. The death shortly occurs after birth.
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