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Ellis-van Creveld Syndrome - Clinical Manifestations and Treatment

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Ellis-van Creveld syndrome is a rare genetic disorder affecting bone development in children. This article provides detailed information on this syndrome.

Medically reviewed by

Dr. Veerabhadrudu Kuncham

Published At January 25, 2023
Reviewed AtJune 12, 2023

Introduction

Ellis-van Creveld syndrome is a rare congenital disability that affects the development of bones in the child, causing skeletal deformities. However, the cognitive ability of the child with Ellis-van Creveld syndrome remains unaffected. This syndrome is an inherited autosomal recessive condition resulting in dwarfism and polydactyly. More than 50 percent of the affected children have cardiac defects. McIntosh first reported this condition in 1933, but Richard W.B. Ellis of Edinburgh and Simon van Creveld of Amsterdam explained more in detail about the clinical presentation of this syndrome in 1940. Hence the syndrome was named Ellis-van Creveld syndrome.

What Are the Other Names of This Condition?

  • Chondroectodermal dysplasia.

  • Meso ectodermal dysplasia.

What Is the Incidence of Ellis-van Creveld Syndrome?

  • Ellis-van Creveld syndrome is a rare autosomal recessive condition.

  • The incidence of this syndrome is 1 in 60,000 to 200000 live births.

  • It has no gender predilection; this disease affects males and females equally.

  • The highest number of cases is reported in Lancaster County, Pennsylvania, in the Old Order Amish population and also among the natives of Western Australia.

Autosomal Recessive Inheritance - What Is It?

In the autosomal recessive pattern, the gene mutations are seen in any 22 pairs of autosomes. In autosomal recessive inheritance, either parent can have a defective gene and be the carrier of the disease and have the ability to pass on the defect to their children. There is a 25 percent chance for an affected child, a 50 percent chance for an unaffected child with mutated genes (carriers of the disease), and a 25 percent chance for a healthy baby.

What Causes This Syndrome?

Ellis-van Creveld syndrome is due to the gene mutations located on chromosome number four. The two genes responsible for this condition are EVC and EVC 2. The mutations may result in dysfunction of the proteins produced by these genes causing disturbances in the growth and development of the baby. However, the exact mechanism by which the defective proteins are responsible for causing symptoms is still unclear.

What Are the Clinical Manifestations of Ellis-van Creveld Syndrome?

The most common clinical features of this syndrome are:

  • They have short stature, and their average height is 3.5 to 5 feet.

  • The extremities are short, especially the forearm and the thigh bone, but the head and trunk appear to be normal.

  • Presence of extra fingers (polydactyly).

  • Abnormalities are seen in the appendages of the skin, nails, and hair.

  • The nails are either missing or deformed.

  • The hair is sparse and has a soft texture.

  • In some cases, the baby is born with natal teeth.

  • There is a complete absence or delay in the eruption of teeth.

  • Cleft palate and cleft lips are commonly seen (opening seen in the roof of the mouth and grooves present on the lips).

  • The teeth appear to be morphologically altered.

  • In males, the testicles are undescended (cryptorchidism).

  • Presence of knock-knees or genu valgum. It is a condition characterized by large gaps between the feet.

  • Septal defects of the heart are common.

What Are the Possible Complications?

What Are the Risk Factors?

As Ellis-van Creveld syndrome is an inherited genetic condition, there is a high risk in children born to parents who had consanguineous marriages.

What Are the Conditions Similar to Ellis-van Creveld Syndrome?

Some conditions share similar characteristics, like the Ellis-van Creveld syndrome. They are:

  • Weyers acrofacial dysostosis.

  • Jeune syndrome.

  • McKusick-Kaufman syndrome.

  • Saldino-Noonan syndrome.

  • Majewski syndrome.

  • Beemer-Langer syndrome.

How To Prevent This Condition?

There is no known method for preventing this syndrome. However, genetic counseling may help to assess the risk of the disease in the baby. It is recommended when parents plan for a baby to understand it better. Genetic screening tests are mandatory if there is a known family history of Ellis-van Creveld syndrome or any other genetic disorder.

How to Diagnose and What Are the Investigative Procedures Required?

The clinician diagnoses this condition by a physical examination of the baby with morphological abnormalities. However, other imaging and laboratory tests may be required to establish the disorder in the child.

  • Prenatal Ultrasound: The ultrasonography taken during the 18th week of gestation may show the presence of any abnormalities such as a narrow thorax, short bones, and cardiac deformities.

  • Nuchal Translucency Test: This test is taken from the 12th to 13th week of gestations. An increased or thickened nuchal translucency is suggestive of any genetic abnormalities.

  • Molecular Genetics: They are currently used for research purposes. However, they have the potential to detect any genetic defects or the factors responsible for genetic mutations.

  • Skeletal X-rays: They help in diagnosing the bone defects of the hands and feet.

  • Echocardiogram: These children are highly susceptible to cardiac problems; therefore echocardiogram is recommended to assess the problems present in the heart.

What Is the Treatment for This Syndrome?

Like any other genetic condition, there is no definitive treatment for this syndrome. Only supportive therapy is recommended to improve the quality of life in the children affected by this syndrome. The palliative therapy provided includes:

  • Breathing Problems: The baby may encounter respiratory distress soon after birth due to the presence of a small chest and cardiac problems. Hence breathing difficulties are treated and monitored regularly.

  • Natal Teeth: Teeth present at birth may interfere with the feeding of the child and also creates discomfort for the mother during nursing. Therefore they are removed by a pediatric dentist.

  • Reconstructive Surgeries: An orthognathic reconstructive surgery is performed for the closure of the opening in the roof of the mouth.

  • Cardiac Problems: A pediatric cardiologist may be required to treat the cardiac problems present in the child. In some children, surgery may be necessary to rectify cardiac problems, and nonsurgical intervention is also done in some cases.

  • Orthopedic Surgeries: Bone deformities are corrected by multiple surgeries by an orthopedic surgeon. Osteotomies are performed to correct the knock-knees. However, it has a high recurrence rate and may require several surgeries.

  • Polydactyly: The presence of an extra finger in the hands and feet may interfere with function and be an aesthetic concern. So they are surgically removed during the first year of life.

What Is the Prognosis?

The babies affected by this condition are stillborn or die soon after birth. It is mainly due to a small ribcage that may cause breathing distress and cardiac problems.

Conclusion:

Although there are no preventive methods or a permanent cure for this genetic disease, medical advancements, and highly efficient healthcare professionals help improve the affected children's survival. It can be challenging for the parents to take care of a child diagnosed with Ellis-van Creveld syndrome, so they are given psychological counseling to motivate them and their child to overcome the health problems. In addition, genetic counseling can help assess the defect in the baby, so proper diagnostic tests and regular prenatal visits are mandatory for a healthy pregnancy.

Dr. Veerabhadrudu Kuncham
Dr. Veerabhadrudu Kuncham

Pediatrics

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