Nager syndrome

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

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.

Recognised features include

Facial
Other skeletal

In addition there can also be tracheal / laryngeal anomalies

It was initially described by Nager and deReynier in 1948

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Article information

rID: 14644
Tag: cases
Synonyms or Alternate Spellings:
  • Acrofacial dyostosis
  • Nager acrofacial dyostosis
  • Nager's acrofacial dysostosis

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