acrofacial dyostosis

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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:

facial:
- antimongoloid slant
- lower lid ptosis
- microtia
- micrognathia
- mandibular hypoplasia
- hearing loss
- auricular tags
- cleft lip + / - palate
other skeletal:
- radial hypoplasia or radial aplasia
- fibular hypoplasia or fibular aplasia
- radio-ulnar synostosis
- thumb anomalies
  - hypoplastic thumbs
  - thumb aplasia
  - triphalangeal thumb
- syndactyly

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.