acrofacial dysostosis, Weyers type

Acrofacial dysostosis, Weyers type (WAD) is a rare genetic disorder that affects the development of the bones of the face, hands, and feet. This condition is part of a group of ectodermal dysplasia syndromes, which means that it involves changes in the skin, nails, and bone structure. People with this condition may have a unique facial appearance and differences in limb structure. The syndrome is characterized by several distinct features such as abnormal nail development (onychodystrophy), changes in the structure of the lower jaw, differences in the oral vestibule and teeth, and an extra digit (post-axial polydactyly). Despite these physical characteristics and moderately restricted growth with short limbs, individuals typically have normal intelligence. WAD is often milder compared to related conditions and does not usually include heart abnormalities, which helps differentiate it from conditions like Ellis-van Creveld syndrome.

The common signs of acrofacial dysostosis, Weyers type include abnormal nail development and changes in the bones of the face and hands. People with this condition might have a lower jaw or dental anomalies, and often an extra digit is present. They may also experience moderately restricted growth resulting in short limbs, while generally having normal intellectual abilities.

Acrofacial dysostosis, Weyers type is inherited in an autosomal dominant manner, meaning a change in just one copy of the gene can lead to the condition. Research has linked alterations in the EVC and EVC2 genes with this disorder. These genetic changes affect the normal development of bones and other structures during early growth.

Information about treatment is currently limited for this condition.

Based on current information, people with acrofacial dysostosis, Weyers type typically experience a milder course compared to some related conditions. They generally have normal intelligence and do not face heart abnormalities, even though they might experience some differences in bone structure and moderate growth restrictions. Detailed long-term outlook and quality of life considerations have not been fully described.

Information about research is currently limited for this condition.