What is an Acrofacial Dysostosis?

May 16 23:14 2019 Print This Article

It is defined as a condition in which there is an involvement of the skull and upper limbs. The nager is the most common form of this disorder. It is also referred as a pre axial acro facial dysostosis. It was coined by the Nager and De Reynier in the year 1948. It is sporadic and can be inherited also. The gene for this disorder is located around 9q32 and the gene which is involved is the ZFP 37.

What are the signs and symptoms of the Acrofacial dysostosis?

It includes the micro gnathia, downwards palpebral fissures, and lower eyelids coloboma and there is an absence of thumbs.

What is the treatment of Acrofacial dysostosis?

There is no specific treatment for this disorder.

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