Overview

Receiving a diagnosis of Ellis-Van Creveld Syndrome (EVC) can feel overwhelming due to its rarity and the complexity of challenges it represents for the skeletal muscle. To understand how isolating this syndrome is, the statistics show only 150 cases worldwide, those that are recorded, and the Amish community, which is most affected.¹ This condition is often passed down through autosomal recessive inheritance from the mutation of EVC and EVC2 genes, which code for cell growth and development, and help shape the structure of important organs (e.g., the heart).²

EVC affects the bones, nails, teeth, and the heart. These include extra fingers on the outside of hands (postaxial polydactyly), short height, dental and mouth differences, such as unusual teeth or oral changes, and congenital heart problems. Consequently, respiratory health is a big concern for those suffering EVC, with doctors often observing a narrow chest with short ribs on X-ray examinations.³ Therefore, this article explores why breathing difficulties occur, focusing on thoracic insufficiency (when the chest cannot support normal breathing) and the challenges around airway management. It aims to better understand what is happening, what doctors may look for, and the therapeutic strategies available to support breathing. 

Understanding the respiratory challenges in EVC

While extra fingers or short stature are often noticed first, it is the breathing difficulties that pose serious challenges in daily life and impact long-term health in EVC, often beginning early in life. Below are factors that can create an image of restrictive lung disease, where the lungs simply cannot expand and function as they should in daily life. 

Why is breathing affected?

Thoracic malformations

The narrow chest cavity (thorax) and short ribs cause intrathoracic compression and congestion.⁴ This limits the space available for the lungs to exhale, making it harder to take deep breaths, often resulting in rapid, shallow breathing and reduced exercise tolerance or endurance due to less oxygen intake. 

Pulmonary hypoplasia

Due to EVC and EVC2 gene mutations impairing the development of critical organs, of which the lungs can be affected.² Improper development causes the chest to be small, meaning fewer air sacs (alveoli) are able to branch out and increase the surface area available for oxygen exchange.⁵

Oral breathing impairments

Some infants born with EVC also have craniofacial differences, such as a cleft lip, or impaired oral manifestations, where there is a fusion of the lip and gum (labiogingival adherences). These can make the upper airway more prone to blockage, and persistent mouth breathing causes a reduction in filtration and an increase in infections.^6,7

Thoracic insufficiency in EVC

To explore further how thoracic malformations impact the quality of life in children with EVC, the information below will provide details on the difficulties and complications that can arise following the inability of the thorax to support normal breathing and growth.⁸

Impact on breathing

• Thoracic insufficiency syndrome (TIS) can cause tachypnea (rapid breathing) with a short amount of exercise, often not vigorous, and eventually even when the child is at rest. This is due to the respiratory muscle weakness and the deformed chest wall, which are unable to comply with the rhythmic exercise⁹
• Long-term complications can often cause patients suffering with TIS to develop respiratory failure, with night-time hypoxemia (low oxygen levels)¹⁰ and hypercapnia (higher carbon dioxide levels), which can lead to pulmonary hypertension and right heart failure⁹

Impact on daily life

• TIS can cause exercise intolerance and exertional dyspnea (shortness of breath), leading to a sedentary lifestyle and avoidance of physical activity.⁹ This can consequently lead to weight gain and a disrupted social life, where the children are unable to partake in sports and engage in community activities that require physical activity 
• Nutritional deficits are common for children with thoracic impairments. Children with TIS often reduce food intake, focusing on eating frequent, smaller meals to prevent further restriction of the lungs. This can also have a secondary impact on sleep quality, which results in unwellness due to multiple awakenings as the effort of breathing correlates strongly with the nutritional status^11,12
• Patients often experience a troubling and ineffective cough, which can directly impact the mental health of the child due to fatigue and impairment on the quality of life. This cough arising from TIS can increase risks of atelectasis (lung collapse) and pneumonia. Therefore, it should be treated as soon as it is noticed⁹

Airway management challenges

Airway management is more than just the gas exchange that occurs in the lungs. The mouth and neck are the starting points for air intake; therefore, craniofacial (head and face) impairments can restrict air flow. 

Structural challenges

• Features such as a cleft palate can lead to backward displacement of the tongue, contributing to airway obstruction and obstructive sleep apnoea. This often requires specialised feeding techniques and surgical interventions like tongue-lip adhesion to mitigate airway obstructions¹³
• Structural defects in the nasal cavity can compromise airflow and ventilation 
• Abnormal cartilage and soft tissue development in the larynx and trachea can lead to structural airway defects, which may consequently cause an ineffective cough¹⁴

Functional challenges

• The requirements of mouth breathing, due to constitutive nasal structural defects, can cause trauma to the soft tissues in the airways and enlarged tonsils, creating a raised risk of infections.¹⁵ During the night, it can cause snoring and sleep apnoea¹⁶
• Abnormal coordination of swallowing, breathing, and airway protective reflexes can compromise airway patency (openness) and clearance
• A cleft palate can lead to poor feeding ability in infants, as they are unable to create any suction force. This would require the use of specialised feeding bottles. The cleft palate can exacerbate the struggles of medical interventions, where placing a breathing tube during surgery or emergencies, therefore it requires planning and thoughtful actions of experienced anaesthetists¹⁴

Diagnosis and management

This diagnosis of EVC affects multiple systems; respiratory care always requires a multidisciplinary team. This may include pulmonologists, cardiologists, geneticists, anaesthetists, and specialised nurses. Each of whom plays an important role in supporting and creating tailored treatment plans for the child or adult with EVC.

Diagnosis

• Obtaining a detailed history, including genetic family history, the onset of deformity, past treatments and associated conditions 
• Performing a comprehensive physical examination to assess respiratory rate, chest wall motion, and signs of respiratory compromise
• Pulmonary function testing (including spirometry) to assess lung volumes, respiratory mechanics, and gas exchange
• Imaging studies, including X-rays, CT scans, and MRIs, are used to evaluate the spine, chest wall, and lung anatomy⁹

Management 

• Non-surgical approaches for craniofacial impairments and airway management include prone positioning (lying down on your front) to relieve obstruction. This is effective in many cases but requires close monitoring due to risks like sleep apnoea and infection¹⁷
• Non-invasive ventilation, such as continuous positive airway pressure (CPAP), can help support breathing in the upper airways, reducing the strain on the chest and lungs¹⁸
• Surgical treatment options, such as the Vertical Expandable Prosthetic Titanium Rib (VEPTR), growing rods, and MAGEC rods, are available to address spinal and chest wall deformities and support growth⁹

Long-term care

Families often become skilled in monitoring breathing at home, recognising early signs of infection or rapid shallow breathing, or using equipment like oxygen monitors. Continuous support from hospital teams, community nurses, and patient groups is vital to avoid feeling isolated. 

FAQs

How rare is EVC?

There have been fewer than 200 cases worldwide, though it is more common in some communities, such as the Amish.

What signs of breathing problems should you and your family watch out for?

Common signs include rapid or shallow breathing, snoring or noisy breathing during sleep, frequent chest infections, weight loss or poor weight gain, and rapid fatigue with activity.

How are breathing and airway problems diagnosed?

Doctors may use chest X-rays, CT or MRI scans, sleep studies, and lung function tests to understand how the chest and the lungs are structured and functioning.

Can children with EVC live a normal life?

Many children with EVC grow and learn normally in terms of cognitive behaviour and coordination. However, breathing problems can quickly affect the quality of life in social and physical terms, so regular medical follow-ups and supportive care are important.

Summary

Ellis-Van Crevald Syndrome (EVC) is a rare genetic condition that affects bone growth, nails, teeth, and sometimes the heart and lungs. Fewer than 200 cases have been reported worldwide, with the highest prevalence lying within the Amish community. While many people recognise EVC by visible features, such as short stature, extra fingers or toes, and distinctive dental changes, one of the most serious challenges is its effect on breathing. 

The small chest and short ribs seen in individuals limit how much the lungs can expand, a problem known as thoracic insufficiency. This can lead to shallow or rapid breathing, reduced exercise tolerance, frequent chest infections, and, in severe cases, respiratory failure. Airway differences starting in the mouth and nose, such as a cleft palate or narrow nasal passages, may pose further threats to breathing and make feeding difficult for infants. 

Doctors can diagnose this using imaging, lung function tests and sleep studies to assess these challenges. Management usually involves a multidisciplinary team, combining supportive therapies (like CPAP, oxygen, or infection control) with surgical options such as chest expansion or cleft palate repair when needed. Families often learn to monitor breathing at home, adapt routines, and work closely with specialists to gain a more tailored treatment plan.