Chondroectodermal dysplasia

Chondroectodermal Dysplasia

Chondroectodermal dysplasia, also known as Ellis-van Creveld syndrome, is a rare genetic disorder that affects bone growth, leading to short stature (dwarfism), and is often associated with abnormalities of the teeth, nails, and heart. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the EVC or EVC2 genes.

Clinical Features

Individuals with chondroectodermal dysplasia typically present with:

• Short stature: Due to disproportionate shortening of the limbs.
• Polydactyly: Extra fingers or toes, often on the ulnar side of the hand.
• Dental abnormalities: Including malformed teeth and delayed eruption.
• Nail dysplasia: Abnormalities in the shape and texture of the nails.
• Congenital heart defects: Such as atrial septal defects or single atrium.

Genetics

Chondroectodermal dysplasia is caused by mutations in the EVC or EVC2 genes, which are located on chromosome 4p16. These genes are involved in the Hedgehog signaling pathway, which is crucial for normal development of bones and other tissues.

Diagnosis

Diagnosis is based on clinical features and can be confirmed by genetic testing to identify mutations in the EVC or EVC2 genes. Prenatal diagnosis is possible if the mutations in the family are known.

Management

Management of chondroectodermal dysplasia is symptomatic and supportive. It may include:

• Orthopedic interventions: To address limb deformities and improve mobility.
• Dental care: Regular dental check-ups and interventions to manage dental abnormalities.
• Cardiac care: Monitoring and treatment of heart defects.

Epidemiology

Chondroectodermal dysplasia is a rare condition, with a higher prevalence in certain populations, such as the Old Order Amish community, due to a founder effect.

History

The condition was first described by Richard W. B. Ellis and Simon van Creveld in 1940, who identified the syndrome in a group of patients with similar clinical features.

Also see

• Dwarfism
• Polydactyly
• Congenital heart defect
• Genetic disorder