Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Acrofacial dysostosis
Introduction
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.