Nager acrofacial dysostosis

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Nager acrofacial dysostosis
Other namesNager syndrome, mandibulofacial dysostosis with preaxial limb anomalies
autosomal dominant manner.[2]

Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics:

elbow, and may be characterized by accessory tragi.[3] Occasionally, affected individuals develop vertebral anomalies such as scoliosis
.

The inheritance pattern is

Pierre Robin
.

Genetics

While Nager syndrome is thought to be most often caused by

spliceosomal factor SF3B4,[4] in over one third of patients tested, the SF3B4 mutation is not found.[5] Genetic sequencing shows that the syndrome can be caused by either autosomal recessive or autosomal dominant inheritance.[6]

Treatment

Due to craniofacial development, it is recommended that families work closely with craniofacial specialists as soon as Nager is recognized or suspected. Children born with Nager may need intubation immediately after birth, requiring tube feeding and a tracheotomy tube to help with breathing. Surgical intervention is commonly necessary to increase mandibular mobility. As the child grows and develops, further surgery is usually required on the lower jaw and is often done in tandem with orthodontic treatments.[7] Further treatment depends upon the symptoms of the individual patient and may include oral surgery, plastic surgery, audiological intervention to manage hearing loss, speech therapy, and surgery on the limbs to aid with mobility limitations.[8]

See also

References

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Nager syndrome". www.orpha.net. Retrieved 27 April 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ "OMIM Entry - # 154400 - ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1". omim.org. Retrieved 19 August 2017.
  3. ISBN 978-1-4160-2999-1
    .
  4. PMID 22541558
    .
  5. PMID 32537850
    .
  6. PMID 34691433
    .
  7. ^ "Plastic & Reconstructive Surgery: Nager syndrome". UCSF Benioff Children's Hospitals. Retrieved 31 October 2021.
  8. ^ "Nager Syndrome". National Organization for Rare Disorders. Retrieved 31 October 2021.

External links

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