acrofacial dyostosis

The Nager syndrome (also known as acrofacial dysostosis) is a rare congenital syndrome primarily characterized by facial and skeletal features

Clinical presentation

Recognized features include:

In addition there can also be tracheal and laryngeal anomalies

Pathology

Genetics

There may be agenetic defect localized to chromosome 9q32. Most cases are thought to be sporadic. Occasional autosomal recessive and autosomal dominant forms have been described.

History and etymology

It was initially described by Nager and deReynier in 1948

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