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Nager syndrome

Dr Abhilash Sandhyala and Dr Yuranga Weerakkody et al.

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

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.

Clinical features

Recognised features include

Facial

Other skeletal

In addition there can also be tracheal / laryngeal anomalies

Etymology

It was initially described by Nager and deReynier in 1948

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