Nager acrofacial dysostosis
Type of disease: Rare conditions
Nager acrofacial dysostosis (NAFD, Nager syndrome) is a rare disorder that affects the development of the face, hands, and arms. The severity of this condition is variable among affected individuals. People with Nager syndrome usually have downward slanting eyes, a small lower jaw, absent or underdeveloped cheekbones and ears, and may also be born with an opening in the roof of the mouth also known as a cleft palate. People with Nager syndrome may also have bone abnormalities in their hands or arms. The most common of these is malformed or absent thumbs, but they may also exhibit curved fingers (clinodactyly) or fused fingers (syndactyly). They may have a shortened forearm due to underdeveloped bones and have difficulty extending their elbows. In rare cases, affected individuals may also experience heart, kidneys, genitalia, and urinal tract problems. People with Nager syndrome usually have normal levels of intelligence. Currently, the cause of Nager syndrome is unknown, but most cases are found to be sporadic meaning there were no previous cases of the condition in their family history. However, there have been a few familial cases reported. Treatment of Nager depends on the specific symptoms and challenges present. Hearing aids are usually given to assist the individuals with any hearing loss. Plastic and/or facial surgery may also be required to fix breathing and feeding problems. Early intervention with physical, occupational, and speech therapies will also maximize one’s capabilities. If you or a family member is diagnosed with Nager syndrome, know that you are not alone, and that there are families and organizations available for help and support and numerous of online resources.