Summary about Disease
Ellis-van Creveld (EVC) syndrome, also known as chondroectodermal dysplasia, is a rare genetic disorder affecting bone growth, particularly in the limbs. It also often involves ectodermal tissues (hair, nails, teeth) and may affect the heart. The syndrome is characterized by short stature, short ribs, polydactyly (extra fingers), nail dysplasia, and dental abnormalities. The severity of the condition can vary significantly between individuals.
Symptoms
Symptoms of Ellis-van Creveld syndrome can include:
Short stature: Disproportionate dwarfism with shortened limbs.
Polydactyly: Extra fingers (most commonly on the ulnar side of the hand) and/or toes.
Short ribs: Which can lead to breathing problems, especially in infancy.
Nail dysplasia: Abnormally formed or absent fingernails and toenails.
Dental abnormalities: Including natal teeth, missing teeth, or abnormally shaped teeth.
Heart defects: Congenital heart defects, particularly atrial septal defects (ASD), are common.
Fusion of the capitate and hamate bones in the wrist
Cleft Lip and Palate
Epstein's pearls
Causes
Ellis-van Creveld syndrome is caused by mutations in the EVC or *EVC2* genes. These genes are located adjacent to each other on chromosome 4p16.2 and involved in the sonic hedgehog (SHH) signaling pathway which is important for limb and skeletal development. The condition is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
4. Medicine used There is no specific cure for Ellis-van Creveld syndrome; treatment focuses on managing the symptoms and complications. Medical interventions can include:
Surgery: To remove extra fingers or toes (polydactyly) and to correct heart defects.
Orthodontic treatment: To address dental abnormalities.
Growth hormone therapy: May be considered, but its effectiveness is variable.
Medications: To manage any heart failure or respiratory problems.
Antibiotics: Promptly address any infections.
Is Communicable
No, Ellis-van Creveld syndrome is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since Ellis-van Creveld syndrome is a genetic condition, there are no specific precautions to prevent it. However, genetic counseling is recommended for couples who have a family history of the syndrome or are known carriers of the mutated genes. Prenatal testing may also be available. Affected individuals should take precautions to:
Manage their specific health issues, such as heart defects or respiratory problems.
Maintain good dental hygiene.
Avoid activities that could increase the risk of injury, given the potential for skeletal abnormalities.
How long does an outbreak last?
Ellis-van Creveld syndrome is not an infectious disease, therefore it does not have outbreaks. It is a lifelong genetic condition.
How is it diagnosed?
Ellis-van Creveld syndrome can be diagnosed through:
Physical examination: Identifying the characteristic features of the syndrome.
X-rays: Assessing skeletal abnormalities, such as short ribs, short limbs, and polydactyly.
Echocardiogram: Evaluating for heart defects.
Genetic testing: Confirming the diagnosis by identifying mutations in the EVC or *EVC2* genes.
Prenatal ultrasound: Polydactyly and limb shortening may be detected.
Chorionic villus sampling (CVS) or amniocentesis: Genetic testing can be performed prenatally.
Timeline of Symptoms
9. Timeline of symptoms The timeline of symptoms can vary, but generally:
Prenatal/Newborn: Polydactyly may be detected on prenatal ultrasound. Short ribs and, less commonly, limb shortening may also be detected. Natal teeth may be present at birth.
Infancy: Short ribs can cause respiratory problems. Heart defects may be diagnosed.
Childhood: Short stature becomes apparent. Nail and dental abnormalities are noticed.
Throughout Life: Management of any associated health problems (e.g., heart problems, dental issues) continues throughout life.
Important Considerations
Multidisciplinary Care: Management of Ellis-van Creveld syndrome requires a multidisciplinary approach involving pediatricians, geneticists, cardiologists, orthopedists, dentists, and other specialists.
Genetic Counseling: Genetic counseling is essential for affected individuals and their families to understand the inheritance pattern and recurrence risk.
Early Intervention: Early intervention and management of complications can improve the long-term outcome.
Variable Expression: The severity of the condition can vary significantly between individuals, even within the same family.
Surveillance: Regular monitoring for potential complications, such as heart problems and respiratory issues, is important.