Ellis-van Creveld syndrome

Ellis-van Creveld syndrome:

Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth.

Causes:

Ellis-van Creveld is passed down through families (inherited). It is caused by defects in 1 of 2 Ellis-van Creveld syndrome genes (EVC and EVC2). These genes are positioned next to each other on the same chromosome.

The severity of the disease varies from person to person. The highest rate of the condition is seen among the Old Order Amish population of Lancaster County, Pennsylvania. It is fairly rare in the general population.

Symptoms may include:

• Cleft lip or palate
• Epispadias or undescended testicle (cryptorchidism)
• Extra fingers (polydactyly)
• Limited range of motion
• Nail problems, including missing or deformed nails
• Short arms and legs, especially forearm and lower leg
• Short height, between 3 1/2 to 5 feet (1 to 1.5 meters) tall
• Sparse, absent, or fine textured hair
• Tooth abnormalities, such as peg teeth, widely-spaced teeth
• Teeth present at birth (natal teeth)
• Delayed or missing teeth

Exams and Tests

Signs of this condition include:

Growth hormone deficiency

Heart defects, such as a hole in the heart (atrial septal defect), occur in about half of all cases

Tests include:

Chest x-ray,    Echocardiogram    وGenetic testing may be performed for mutations in 1 of the 2 EVC genes,    Skeletal x-ray,    Ultrasound,    Urinalysis

Treatment:

Treatment depends on which body system is affected and the severity of the problem. The condition itself is not treatable, but many of the complications can be treated.

Many babies with this condition die in early infancy. Most often this is due to a small chest or heart defect. Stillbirth is common.

The outcome depends on which body system is involved and to what extent that body system is involved. Like many genetic conditions involving bones or the physical structure, intelligence is normal.

• Complications may include:
• Bone abnormalities
• Breathing difficulty
• Congenital heart disease (CHD) especially atrial septal defect (ASD)
• Kidney disease

Prevention

Genetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of EVC syndrome.

Alternative Names

Chondroectodermal dysplasia; EVC