Ellis–van Creveld syndrome

Rare genetic disorder

Ellis–van Creveld syndrome
Synonyms	Chondroectodermal dysplasia
Symptoms	Short stature, polydactyly, congenital heart defects, dental abnormalities
Usual onset	Birth
Duration	Lifelong
Causes	Genetic mutation in EVC or EVC2 genes
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Achondroplasia, Jeune syndrome
Treatment	Symptomatic management, surgical interventions
Prognosis	Variable, depending on severity of symptoms
Frequency	Rare

Ellis–van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare genetic disorder that affects the development of the bones, teeth, and other parts of the body. It is named after the physicians Richard W. B. Ellis and Simon van Creveld, who first described the condition in 1940.

Signs and symptoms

Individuals with Ellis–van Creveld syndrome typically present with:

• Short stature
• Polydactyly (extra fingers and/or toes)
• Congenital heart defects, such as atrial septal defect
• Dental abnormalities, including malformed teeth and delayed eruption
• Nail dysplasia
• Cleft palate

Genetics

Ellis–van Creveld syndrome is inherited in an autosomal recessive manner. It is caused by mutations in the EVC or EVC2 genes, which are located on chromosome 4. These genes are involved in the Hedgehog signaling pathway, which is crucial for normal skeletal development.

Diagnosis

Diagnosis of Ellis–van Creveld syndrome is based on clinical evaluation and confirmed by genetic testing. Prenatal diagnosis is possible through amniocentesis or chorionic villus sampling if there is a known family history of the disorder.

Treatment

There is no cure for Ellis–van Creveld syndrome. Treatment focuses on managing symptoms and may include:

• Surgical correction of congenital heart defects
• Orthopedic surgery for polydactyly and other skeletal abnormalities
• Dental care for managing dental abnormalities
• Regular monitoring and supportive care

Prognosis

The prognosis for individuals with Ellis–van Creveld syndrome varies depending on the severity of symptoms. With appropriate medical care, many individuals can lead relatively normal lives, although they may face challenges related to their physical abnormalities.

Related pages

• Achondroplasia
• Jeune syndrome
• Polydactyly
• Congenital heart defect
• Genetic disorder

References

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