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Condition report · Musculoskeletal

SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)

A rare condition affecting the development of the face and arms, with a small lower jaw and underdeveloped thumbs. It is caused by loss of one working copy of the SF3B4 gene and is a known cause of Nager syndrome.

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The condition we analyse

Autosomal dominant

Caused by changes that stop one copy of the SF3B4 gene from working; SF3B4 is part of the machinery that splices gene transcripts.

Signs and symptoms

A small lower jaw, underdeveloped cheekbones and downslanting eyes, often with cleft palate and conductive hearing loss. The thumbs are malformed or absent, and the forearm bones may be shortened. Breathing and feeding difficulties are common in infancy. The legs or feet can also be involved.

What a diagnosis changes

Newborns may need airway and feeding support. Hearing, palate, jaw and hand problems are treated as needed. Genetic counselling and parental testing help clarify recurrence risk.

Genes analysed

Includes 1 related subtype ↓
  • Nager acrofacial dysostosis
MONDO:0800483Sources: [1][2][3]

References

  1. Nager syndrome. MedlinePlus Genetics
  2. Cadieux-Dion M, Hughes S, Engleman K, Rush ET, Saunders C, 2021. Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease. American journal of medical genetics. Part A
  3. Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R et al., 2017. Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. PLoS genetics

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