Ellis-van Creveld Syndrome Support

Ellis-van Creveld (EvC) Syndrome Foundation

(Chondroectodermal Dysplasia)

17 Bridlewood Trail
Honeoye Falls, NY 14472
ph: 585-737-1500
PattiMO44@aol.com

Brochure

A BROCHURE BY PARENTS

WELCOME to the EvC Support Group! We hope to provide you with support and understanding, and share what we know as we learn more about this rare syndrome.

EVC ‘is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), knock-knees, abnormal development of the fingernails, and, in over half of cases, congenital heart defects-which are correctable.’*

LIFE WITH EVC We have noticed that most children with EvC are bright and industrious. Given a chance, they will find ways to do what everyone else is doing. There are many adults in our group who have a variety of education and employment. EvCers have a tremendous sense of balance and are very dexterous. Some are involved in gymnastics and sports such as baseball. EvC children are generous of spirit and have a great ability to entertain people with their wit.

GROWTH There is moderate to marked short stature. Ultimate adult height is between 3 feet 8 inches (106cm/42in) and 5 feet (153cm/60in)

ATRIAL SEPTAL DEFECT Congenital heart defects occur in about 50% of patients. The most common heart defect is atrial septal defect which means there is a hole in the heart between the upper two heart chambers. The heart defect is often surgically corrected.** If it hasn’t been done, DEMAND an echocardiogram be done by a pediatric cardiologist. Sometimes the defect is absent, but a murmur can be detected.

SMALL CHEST One feature of EvC is a small chest that appears long and narrow. Approximately 1:3 children die in the neonatal period due to a combination of respiratory distress and cardiac problems. This condition may not be evident immediately and requires careful monitoring. Some children have very few problems with their chest, others suffer asthmatic symptoms and frequent respiratory infections. As the child gets older, the rib cage grows and the respiratory problems diminish.

POLYDACTYLY (extra fingers and/or toes) is a common occurrence. Surgery to remove the extra digits is generally done between the ages of 1 and 5 years. Another dysfunction of the hands is joint limitation which is secondary to abnormality of proportion and growth of the phalanges.

There is a VALGUS or knock-knee deformity. It is often quite severe, progressive and functionally debilitating. This will require clinical monitoring throughout childhood. Radiologic and orthopedic assessment should be sought if valgus (knock-kneed angle) exceeds 15 degrees.

Surgery is appropriate if the valgus results in pain, kneecap instability, and marked abnormality of gait. Surgical correction involves release of tight soft tissue about the outer side of the knee and realignment of the tibia. Femoral realignment can be required.

The skin manifestations include problems with the nails and teeth. The finger and toenails are small or unusual appearing. The hands are short and wide and have additional digit (polydactyly) next to the fifth finger or ‘pinkie’ finger. This occurs in virtually 100% of EvCers and 10-25% of EvCers have extra toes.

TEETH ABNORMALITIES can include natal teeth, partial anodontia or malformed teeth, enamel and dentin abnormalities, and pre-disposition to caries due to brittle enamel. Anodontia particularly important with respect to articulation and to appearance and self-image. Early intervention with a pediatric dentist is essential as a first step prior to school age.

RENAL Low incidence of structural and tubular abnormalities of the kidneys. An early renal ultrasound is recommended as is a urinalysis for amino acids to assess for renal tubular function.

This syndrome was named for Richard Ellis, Scottish pediatrician and Simon van Creveld, Dutch pediatrician; who discovered they each were treating a patient with the same symptoms. They wrote a paper on this new syndrome in 1940.

***National Library of Medicine-Ellis-van Creveld Syndrome

**OMIM Online Database-Ellis-van Creveld

PLEASE CONTACT US!

Webmaster 1

Patti Olesik, mother of Stephen

17 Bridlewood Trail

Honeoye Falls NY 14472

585-624-8277

www.ellis- vancreveldsyndrome.org email: PattiMO44@aol.com

Webmaster 2

Kate Lawrence, mother of Angus

200 Springburn Way