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Weyers acrofacial dysostosis

Weyers acrofacial dysostosis



Overview

Weyers acrofacial dysostosis (WAD), or Curry-Hall syndrome, is a rare autosomal dominant skeletal dysplasia characterized by postaxial polydactyly (extra fingers/toes), nail dystrophy, dental anomalies (small/conical teeth), and mild short stature. It is caused by mutations in the EVC2 gene and is generally a milder, non-lethal form of Ellis-van Creveld syndrome, usually without heart defects

Symptoms

Limb Anomalies: Postaxial polydactyly (extra digits on the hands or feet, usually on the pinky side) and fusion of the 5th and 6th metacarpals/metatarsals.

Dental Anomalies: Hypodontia (fewer teeth than normal), microdontia (small teeth), peg-shaped or conical teeth, and single central incisors.

Nail Dystrophy: Abnormally small, brittle, or malformed fingernails and toenails (onychodystrophy).

Facial Features: Micrognathia (small lower jaw/mandible), small mouth, and abnormal dentation.

Growth: Mildly short stature (often around the 5th percentile).

Other Potential Features: External ear abnormalities, accessory tragi (skin tags near the ear), and sometimes, though rarely compared to [Ellis-van Creveld syndrome], heart defects.

Causes

Gene Mutations: The condition is primarily caused by heterozygous mutations in the EVC2 gene, with rarer cases linked to the EVC gene.

Inheritance Pattern: WAD is inherited in an autosomal dominant pattern. This means an affected individual needs only one copy of the altered gene to have the disorder.

Affected Proteins: The mutations result in abnormal EVC or EVC2 proteins, which disrupt the Sonic Hedgehog signaling pathway responsible for regulating cell growth and body patterning.

Relationship to EVC Syndrome: WAD is a milder allelic variant of Ellis-van Creveld (EVC) syndrome. While EVC syndrome is usually autosomal recessive, WAD is dominant.

Diagnosis

Polydactyly: Extra fingers or toes (postaxial, on the pinky side).

Nail Dystrophy: Small, malformed, or dysplastic fingernails and toenails.

Dental Anomalies: Small, conical teeth (microdontia) or fewer teeth than normal (hypodontia), often with mandibular issues.

Skeletal Findings: Mild short stature/shortened limbs.

Distinct from Similar Disorders: Unlike the similar, more severe Ellis-van Creveld syndrome, WAD typically does not include congenital heart defects.

Treatment

Surgical Correction: Surgical removal of extra fingers or toes (polydactyly) is standard, often performed early in childhood.

Dental Management: Specialized dental care is necessary for managing supernumerary (extra) teeth and correcting other dental anomalies to improve function and aesthetics.

Multidisciplinary Care: Management often involves a team, including a pediatrician, plastic surgeon, dentist, and genetic counselor.

Airway Management: Although more common in Nager syndrome, if facial anomalies restrict breathing, specialized airway management may be needed.

Follow-up: Regular monitoring is needed to manage developmental milestones and treat potential mild short stature or other skeletal anomalies.

Type of Doctor Department : A pediatric specialist, craniofacial surgeon, and orthopedist.

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