Acrofacial dysostosis, Weyers type

Acrofacial dysostosis, Weyers type (also known as Weyers acrofacial dysostosis or Weyers acrodental dysostosis) is a rare genetic disorder characterized by abnormalities affecting the limbs, face, and teeth. It is caused by heterozygous mutations in the EVC2 gene (also known as LIMBIN), which plays a role in hedgehog signaling and skeletal development. This condition is allelic to Ellis-van Creveld syndrome, which is caused by biallelic mutations in the same gene. The hallmark features of Weyers acrofacial dysostosis include mild short stature, nail dystrophy (malformed or small nails), and postaxial polydactyly (extra digits on the pinky side of the hands or feet). Dental anomalies are prominent and include abnormally shaped teeth, neonatal teeth, and oligodontia (missing teeth). Mild lower jaw (mandibular) abnormalities may also be present. Unlike the more severe Ellis-van Creveld syndrome, Weyers type generally does not involve congenital heart defects, though mild cardiac findings have occasionally been reported. Treatment is symptomatic and supportive. Surgical correction may be considered for polydactyly, and dental interventions are often needed to address the tooth abnormalities. Orthopedic and orthodontic follow-up is recommended. Genetic counseling is important for affected families given the autosomal dominant inheritance pattern. The prognosis is generally favorable, with affected individuals typically having a normal lifespan and intellectual development.

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