A-Z of syndromes: Nager syndrome
Nager syndrome, also known as acrofacial dysostosis, is a rare condition that can affect the development of the face, hands, arms and occasionally more seriously major organs such as the heart and kidneys.
The exact cause is unknown and most cases are sporadic. The evidence suggests there are descriptions of differences in chromosome 9, and other studies have suggested a fault in a single gene.
Autosomal dominant cases
The severity of this disorder varies among individuals and those with a subtle presentation may parent children who are severely affected. This suggests that some cases could be autosomal dominant (inherited from one parent).
Individuals have underdevelopment of the mid-face and lower jaw because of the way the branchial arches are formed in the embryo. These branchial are...
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