Nager acrofacial dysostosis
- Acrofacial dysostosis 1, Nager type
- AFD, Nager type
- Mandibulofacial dysostosis with preaxial limb anomalies
- Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies
Your QuestionIs Nager dysostosis inherited? Do family members tend to be similarly affected?
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Questions on this page
- What is Nager acrofacial dysostosis?
- What are the signs and symptoms of Nager acrofacial dysostosis?
- What causes Nager acrofacial dysostosis?
- How is Nager acrofacial dysostosis inherited?
- Do signs and symptoms of Nager acrofacial dysostosis tend to be the same or similar within affected family members?
- Is genetic testing available for Nager acrofacial dysostosis?
- Can Nager acrofacial dysostosis be detected in pregnancy?
- How might Nager acrofacial dysostosis be treated?
Limb anomalies more commonly reported in people with Nager acrofacial dysostosis, include:
- Underdeveloped or absent radius
- Underdeveloped or absent thumbs
- Thumbs with two knuckles (triphalangeal thumbs)
- Joined radius and bones (radioulnar synostosis)
- Underdeveloped jaw (micrognathia)
- Underdeveloped cheekbones
- Downward slanting eyes
- Reduced number of eyelashes
- Small missing segment of the lower eyelid (eyelid coloboma)
- Lack of development of the internal and/or external ear
- Cleft palate
Complications of Nager acrofacial dysostosis may include hearing problems due to abnormal internal and/or external ear development, and breathing and feeding difficulties in infancy due to micrognathia and cleft palate.
There have been reports of families with Nager acrofacial dysostosis demonstrating an autosomal dominant and others 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.
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. 
- O'Neill MJF. ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1. Online Mendelian Inheritance in Man. October 8, 2013; http://omim.org/entry/154400. Accessed 2/25/2014.
- Opitz J. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia. 2003; http://www.orpha.net/data/patho/GB/uk-nager.pdf. Accessed 2/25/2014.
- Nager syndrome. Genetics Home Reference (GHR). July 2010; http://ghr.nlm.nih.gov/condition/nager-syndrome. Accessed 2/25/2014.
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