Acrofacial dysostosis, Nager type

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The term Acrofacial Dysostosis was coined in 1948 by Nager and DeReynier. It describes a syndrome involving the skull and upper limbs. The most common form is the Nager type (NAFD) or Pre-axial Acrofacial Dysostosis.

The most common effects of NAFD include micrognathia, down-slanting palpebral fissures, lower eyelid coloboma, and hypoplastic or absent radii/thumbs.

The disesase is usually sporadic, although it can be inherited. Some research has suggested that the gene for the disease may be located around 9q32, and possibly the gene ZFP-37 may be involved.

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Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .