# Weyers Acrofacial Dysostosis: A Case Report

## TL;DR

This case report describes a 15-year-old girl with Weyers acrofacial dysostosis, a rare genetic disorder marked by dental and skeletal abnormalities.

## Contribution

The paper presents a new clinical case of WAD, highlighting its distinct features compared to similar syndromes.

## Key findings

- The patient exhibited onychodystrophy, polydactyly, and conical-shaped teeth, consistent with WAD.
- Unlike EVC syndrome, the patient did not show congenital heart defects.
- The case supports the genetic link of WAD to chromosome 4p16.

## Abstract

Weyers acrofacial dysostosis (WAD) is a rare skeletal dysplasia, which is autosomal-dominant, and the clinical symptoms are presented as dental anomalies, polydactyly, nail dystrophy, and short physical stature. It is also termed “Curry‑Hall syndrome” and reported to be linked to genetic mutations mapped on chromosome 4p16, the region reported being commonly associated with a similar genetic syndrome, Ellis-van Creveld (EVC) syndrome. Most individuals with EVC have congenital heart abnormalities, most often atrial septal defects, unlike WAD. In this case, a 15‑year‑old girl presented with onychodystrophy and polydactyly observed in the hands and feet, microdontia, or agenesis of teeth, which were conical in shape, with a short stature. The patient had dystrophy of nails since birth, and physical growth in terms of height did not match the normal growth parameters with respect to age. The patient also had abnormal dentation with conical-shaped teeth, with the rest of the clinical presentations suggestive of WAD.