Acrofacial dysostosis

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.