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.
Type I disease is characterized by coarse thin hair, grainy skin lesions, and the development of more than the normal number of fingers on one hand only (unilateral polysyndactyly).
Type VI OFD (Varado-Papp syndrome) is characterized by polydactyly of the toes and postaxial polydactyly of the fingers.
Type I OFD is suspected to be inherited as an X-linked dominant trait.
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