Nager acrofacial dysostosis

What causes Nager acrofacial dysostosis?

There is evidence that at least some cases of Nager acrofacial dysostosis are caused by heterozygous mutation in the SF3B4 gene which is located on chromosome 1q12-q21.

Last updated on 05-01-20

How is Nager acrofacial dysostosis inherited?

Most people with Nager acrofacial dysostosis are the first person in a family with the condition due to a new mutation. In this case, the condition is described as sporadic and not inherited from the parents. People with Nager acrofacial dysostosis are still at risk for passing the condition on to their future children.

There have been a few reports of families with Nager acrofacial dysostosis inherited with an autosomal dominant or autosomal recessive pattern of inheritance.

Autosomal dominant means each child of an affected parent has a 50-50 chance of inheriting the mutant gene. If a child does not inherit the mutant gene, he or she will not develop the disease and cannot pass it to subsequent generations.

Autosomal recessive means the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. These parents have a 25% chance with each pregnancy of having a child with Nager acrofacial dysostosis.

Last updated on 05-01-20

How might Nager acrofacial dysostosis be treated?

In infants with Nager acrofacial dysostosis who experience respiratory distress require immediate attention and may require a tracheostomy. A tracheostomy is a surgical procedure on the neck that opens a direct airway through an incision in the windpipe.

Infants with feeding difficulties may require surgery and/or placement of a feeding tube (gastrostomy). Surgery can be performed to repair cleft palate and often micrognathia. Cosmetic surgery, especially for eyelids, can be performed to ensure complete closure of eyelids at night in order to prevent injury of the cornea. Surgical treatment is best accomplished at a craniofacial center with expertise in plastic surgery, otolaryngology, orthodontics, and dentistry. Hearing aids for individuals with conductive hearing loss should be offered.

Last updated on 05-01-20

Name: Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104
Orlando, FL, 32814, United States
Phone: +1-407-895-0802 Email: Url:
Name: Foundation for Nager and Miller Syndromes 13210 SE 342nd Street
Auburn, WA, 98092,
Toll Free: 1-800-507-3667 Email: Url:
Nager syndrome Genetics Home Reference (GHR). July 2010; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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