Ellis-van Creveld syndrome

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 3.5 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

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
• Genetic testing may be performed for mutations in one of the two EVC genes
• Skeletal x-ray
• Ultrasound
• Urinalysis

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 communities have EVC support groups. Ask your health care provider or local hospital if there is one in your area.

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

Call your provider if your child has symptoms of this syndrome. If you have a family history of EVC syndrome and your child has any symptoms, visit your provider.

Genetic counseling can help families understand the condition and how to care for the person.

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

Horton WA, Hecht JT. Disorders for which defects are poorly understood or unknown. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 700.

Jones KL, Jones MC, DelCampo M. Osteochondrodysplasias. In: Jones KL, Jones MC, DelCampo M, eds. Smith's Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap K.