Overview

Ellis Van Creveld syndrome is a genetic disorder that causes people to have abnormal limbs, teeth, and, in almost half of the patients, heart problems. Managing your condition using orthopaedics (bone, joint, and muscle specialists) involves treating the orthopedic-related symptoms of your condition to improve your chances of a better quality of life.

Introduction

Ellis-Van Creveld (EVC) syndrome is a rare genetic disorder that affects the way your bones grow. It is caused by gene mutations that are passed on from parents to children, typically in an autosomal recessive manner.¹ This means that if you or your partner is at a high risk of passing on the gene, there is a one in four chance that your child will develop it. The genes affected are mainly the EVC1 and EVC 2 genes, but other genes, such as the DYNC2LI1 gene, can be affected. Two variant genes are inherited through an autosomal dominant fashion, meaning if either one or both parents are at risk, the child has a 75% chance of developing EVC syndrome.¹

Orthopaedic-related Symptoms

The symptoms people may experience are vast, incorporating many different body systems such as dental (abnormal teeth) or urogenital(sexual), such as an undescended testicle. The symptoms relating to the heart are classed as a complication of the disease and are the leading cause of a 50% mortality rate with EVC syndrome.²

The orthopaedic symptoms include:

• Polydactyly, pronounced pol-ee-dak-tuh-lee, means you have one or more extra fingers or toes, which may not look like the rest of your fingers
• Dwarfism, when you’re less than 4 feet, 10 inches, or 145 centimeters as an adult
• Much shorter arms and legs than the average person. Usually, pain is associated with this
• Narrow chest with short ribs (a skeletal dysplasia / an abnormal growth of the skeleton)
• Abnormal hands or wrists because the bones haven’t grown properly
• Knock-knees, or severe progressive genu valgum. This is where the knees grow inwards, towards each other, to become so close together while the feet move further and further apart. These knees are also highly prone to dislocation
• In some cases, you might have lumbar lordosis, where the lower part of your spine becomes crooked³

Orthopaedic interventions and limb management

An orthopaedic intervention would begin with a confirmation of your diagnosis, usually from a physical exam which includes measuring your body and limb segments, getting a full body X-Ray, and finally getting a physical and rehabilitation medicine evaluation to check your need for physiotherapy, and gauge whether this will be effective enough, or you need surgery. Treatment from doctors who work on managing conditions affecting the bones and muscles is only effective if both the problems of the bones and muscles around the bone that support it are clearly understood. This gives you a higher chance of not getting any complications or revision surgeries should your initial surgery go well.⁴ Your doctors will also need to work in tandem with the other specialists that might be treating you, such as heart doctors or doctors that deal with pregnancy and children, if you are pregnant, to ensure your best possible outcomes, with constant communication and regularly checking up on your health.⁷

Treatment of Knock-Knees/progressive genu valgum

This is usually a surgical procedure that is a combination of three surgeries. You get a soft tissue release, where you cut the short, tight muscles that are causing pain to release the tension, increase blood flow, and improve your ability to move. Your second surgery is a patellar realignment, where your patella, your knee bone, is moved to the correct position that most normally growing knees are at. This helps with the instability formed by the atypical knees. The third surgery is a bone osteotomy procedure, where your bone is cut through and realigned to fix the incorrect angle the legs bent to when you had knock-knees.⁵ Like all surgeries, there are risks involved, like potential nerve damage or having stiff knees. These might need a revision surgery where your surgeons will go into your knee and leg again and try to fix the complications.⁶

Management of Polydactyly 

Many people with polydactyly have six fingers, and in rare cases, they have seven fingers on both hands. Sometimes polydactyly can be seen whilst you’re still in the womb. If you have more than 5 toes, it will usually be on both feet and is often rarer than polydactyly of the fingers.⁷ To manage polydactyly, you are going to be given the option to have a surgery to remove the extra digits on your hands and feet. Your muscles around the extra digits will be taken off to release any pressure that was around them. Your surgery will be done carefully to try to make sure that you don’t lose your mobility and grip. You will come in for check-ups after the surgery to have a look at how you’re managing and address any complications.⁸

Management of Carpal Abnormalities

Your carpal bones are the bones in the palm of your hand. Apart from having extra fingers, other common abnormalities in the bones of your fingers may reduce your ability to use your hands in the way you want to. The main abnormality seen is when two or more carpal bones fuse, which happens as you grow and contributes to developing short limbs and extra fingers. The severity of the fusion can be classed in a range of tone to five, with five being complete fusion. You can also develop an extra carpal bone, typically in the palm of your hand, which can be very painful and uncomfortable. Carpal abnormalities can lead to a progressive loss of motion and degenerative arthritis, which is inflammation of your joints.⁹ If you don’t feel pain or have any inflammation, then you will just be monitored through the regular check-ins with your orthopedic team. If you have pain and/or inflammation, and want to have a bigger range of motion, then you may be recommended for surgery to fuse some bones for added mobility, if you have extra bones. The solution for fused bones is usually to give you a splint to increase your mobility. Currently, no surgical options are available.¹⁰

Management of Disproportionately Short Limbs

Having disproportionately shorter limbs can cause a myriad of problems and is often linked to having a curved spine/lumbar lordosis. There is no cure for having short limbs, and they can only be monitored through regular check-ups. Some regions use a growth chart to monitor the nature of the growth of your bones. While it is not really accurate due to the low number of people who have this disease available to contrast, and come up with an accurate version. However, it can be used loosely as a guide, which can be very helpful for your family or carer.¹¹ Your growth is monitored to help direct the direction of the growth of your limbs, and in some cases, surgery might be required for this. If you reach an age where you can make medical decisions for yourself, then you could opt for surgery that lengthens your limbs.¹²

FAQs

How quickly can I find out if I have Ellis-Van Creveld Syndrome?

EVC syndrome can be detected as early as 18 weeks of pregnancy, particularly when you have teeth growing in your mouth whilst you’re still in the womb. If not, it is typically diagnosed during infancy because you might miss out on key milestones in your growth and development, at which point your parents or carers may take you to see a health care professional.⁷ 

Who is most likely to be affected by Ellis-Van Creveld Syndrome?

It is found to be present in many ethnic groups globally, but is incredibly rare. In fact, around 250 people are on record as having had it. It equally affects all genders and is most commonly found in the Old Order Amish community in Pennsylvania.¹

Is there anything I can do to prevent Ellis-Van Creveld syndrome in my child?

If you are planning to have children, it is highly recommended that you seek genetic testing and counseling. This is especially true if you know that you are at a high risk of having a baby with the syndrome, or if you know anyone in your family who has EVC syndrome.¹

Summary 

Ellis Van Creveld syndrome is a rare genetic disorder that can result in short limbs, which can lead to a myriad of complications,  such as knock-knees, abnormalities in the hands, and extra fingers. If you don’t have any pain or are happy with your current movement and range of motion, then your doctor will monitor your development throughout childhood. If you are in pain or are having problems with your balance and motion, then you will require surgery to try to fix your complications. In rare cases, if you’re old enough to weigh the risks and benefits, then you may be able to get surgery to lengthen your limbs.