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Ellis-van Creveld syndrome
This syndrome is a rare genetic disorder that impacts bone development, leading to short stature and limb abnormalities. It can also cause heart problems and dental issues, typically presenting in infancy or early childhood.
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Overview
Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, is a rare inherited condition that affects various parts of the body, particularly the bones, teeth, and heart [PMID:32517616]. Individuals with this syndrome often have disproportionately short limbs, especially in the forearms and lower legs, along with extra fingers or toes. Other common features include distinctive dental problems and congenital heart defects.
This syndrome is considered a ciliopathy, meaning it is linked to issues with cilia, which are tiny, hair-like structures on the surface of cells that play a vital role in cellular communication and development [PMID:32517616]. While rare globally, it is observed more frequently in certain populations, such as the Old Order Amish community in Lancaster County, Pennsylvania.
Symptoms & clinical features
The clinical features of Ellis-van Creveld syndrome can vary, but typically include short stature (dwarfism) due to shortened long bones, particularly in the arms and legs [PMID:1770094]. Many individuals also have polydactyly, which is the presence of extra fingers or toes, often on the little finger side of the hand.
Dental anomalies are a common characteristic, including small, widely spaced teeth, natal teeth (teeth present at birth), or missing teeth. The nails may also be small or underdeveloped. A significant proportion of individuals with Ellis-van Creveld syndrome are born with congenital heart defects, which can range from mild to severe, with an atrial septal defect (a 'hole' between the upper chambers of the heart) being particularly common [PMID:1770094]. Other features may include a narrow chest and certain genital abnormalities.
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Affected organs
Ellis-van Creveld syndrome predominantly affects the skeletal system, leading to abnormalities in bone growth and development, particularly in the limbs and ribs. The heart is another organ frequently impacted, with many individuals presenting with structural heart defects at birth. Dental structures, including teeth and gums, are also commonly affected. Less commonly, but still associated, are features affecting the nails and sometimes the genitourinary system.
Risks & severity
The severity of Ellis-van Creveld syndrome can vary significantly among individuals. Heart defects are a major contributor to health concerns, and their severity can range from minor to life-threatening. The skeletal issues, such as short stature and limb abnormalities, are often noticeable from birth. There is no typical age of onset, as the manifestations are generally present from birth or early infancy.
Long-term health outcomes depend heavily on the presence and severity of heart problems, as well as the management of skeletal and dental issues. While the condition can be life-limiting in some severe cases, particularly with complex congenital heart disease, others may have milder forms and can lead relatively independent lives with appropriate medical care and support.
Genetic causes
Ellis-van Creveld syndrome is caused by pathogenic changes (sometimes called mutations) in either the EVC or EVC2 gene. Both of these genes provide instructions for making proteins that are part of a complex called the EvC ciliary complex [PMID:32517616]. This complex is located in primary cilia, which are tiny, finger-like projections found on the surface of most cells in the body.
Primary cilia act like cellular antennae, playing crucial roles in cell signalling pathways that are essential for normal growth and development, particularly affecting bones, teeth, and heart formation. When there are pathogenic changes in the EVC or EVC2 genes, the EvC ciliary complex may not form correctly or function effectively. This disruption in ciliary function impairs the cell signalling, leading to the various developmental abnormalities seen in Ellis-van Creveld syndrome.
- EVC EvC ciliary complex subunit 1The EVC gene provides instructions for a protein crucial for normal growth and development, particularly bone and tooth formation, and is associated with conditions like Ellis-van Creveld syndrome.
- EVC2 EvC ciliary complex subunit 2The EVC2 gene provides instructions for a protein crucial for normal growth and development, particularly for bones and teeth, and is associated with conditions like Ellis-van Creveld syndrome.
Inheritance pattern
Ellis-van Creveld syndrome follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of a pathogenic gene variant - one copy from each parent - to develop the condition. Parents who each carry one copy of the pathogenic variant are known as carriers; they typically do not show symptoms of the syndrome themselves because they have one working copy of the gene.
When two carriers have children together, there is a 25% chance with each pregnancy that the child will inherit two copies of the pathogenic variant and develop Ellis-van Creveld syndrome. There is a 50% chance the child will inherit one pathogenic variant and be a carrier like their parents, and a 25% chance the child will inherit two working copies of the gene and not be affected or a carrier.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
Diagnosis & testing
Diagnosis of Ellis-van Creveld syndrome is often suspected based on characteristic clinical features observed at birth or in early childhood, such as short limbs, extra digits (polydactyly), and specific dental or heart abnormalities. Imaging studies, like X-rays, can help confirm skeletal features, and an echocardiogram is used to assess for congenital heart defects.
Genetic testing is the definitive method to confirm a diagnosis, typically involving analysis of the EVC and EVC2 genes. Referral to a clinical genetics service is usually made by a paediatrician or other specialist, often under NHS Genomic Medicine Service pathways. Genetic testing for this condition may be performed under an NHS R-code, facilitating a precise diagnosis and allowing for family planning discussions with a genetic counsellor.
Management & lifestyle
Management of Ellis-van Creveld syndrome is highly individualised and focuses on addressing the specific symptoms present. It typically involves a multidisciplinary team of specialists, including paediatricians, cardiologists for heart defects, orthopaedic surgeons for skeletal issues, and dentists for dental care. Regular medical follow-up is important to monitor health and address any emerging complications.
Cardiac conditions, if present, are often managed through medication or surgery as appropriate, following established NHS guidelines. Orthopaedic interventions may be considered for severe skeletal abnormalities, and dental care is crucial for managing tooth anomalies. Genetic counsellors play a key role in providing information about the condition, its inheritance pattern, and support for families.
UK care pathway
In the UK, individuals suspected of having a condition like Ellis-van Creveld syndrome would typically be referred by their GP or paediatrician to a clinical genetics service. This service can provide expert evaluation and access to diagnostic genetic testing, often via an NHS R-code, as part of the NHS Genomic Medicine Service. A genetic counsellor is an integral part of this pathway, offering information, support, and guidance to patients and their families regarding the genetic aspects of the condition and its implications.
Frequently asked questions
How serious are the heart problems in Ellis-van Creveld syndrome?
The severity of heart problems can vary greatly. Some individuals may have mild defects that require little intervention, while others can have complex congenital heart disease that needs significant medical or surgical management. A cardiologist will monitor and advise on the best course of action.
Will a child with Ellis-van Creveld syndrome be able to walk?
Most children with Ellis-van Creveld syndrome learn to walk, although their short stature and limb differences may affect their gait. Physical therapy and supportive devices can often help improve mobility and independence.
Can Ellis-van Creveld syndrome be detected before birth?
In some cases, features like shortened limbs or polydactyly may be observed during prenatal ultrasound scans. If there is a family history of the condition, prenatal genetic testing may be an option, discussed with a clinical genetics team.
What support is available for families affected by Ellis-van Creveld syndrome?
Families can access support from their clinical genetics team, including genetic counsellors. Patient support groups and charities can also offer valuable resources, information, and a community for sharing experiences and advice.
Are there specific dietary recommendations for this condition?
There are no specific dietary recommendations directly related to Ellis-van Creveld syndrome itself. However, good nutrition is important for overall health and development, especially for bone and dental health. A healthcare professional can provide personalised advice.
References
- Adam MP, Bick S, Mirzaa GM. Ellis-van Creveld Syndrome. 1993. PMID: 37903214
- Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet journal of rare diseases. 2007. PMID: 17547743
- Perrot A, Rickert-Sperling S. Human Genetics of Ventricular Septal Defect. Advances in experimental medicine and biology. 2024. PMID: 38884729
- Lichiardopol C, Militaru C. Ellis-van Creveld syndrome. Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. 2006. PMID: 17392984
- Jan AU, Ahmad S, Cheema TA. Chondroectodermal Syndrome. Journal of Ayub Medical College, Abbottabad : JAMC. 2018. PMID: 30465389
- Sasalawad SS, Hugar SM, Poonacha KS. Ellis-van Creveld syndrome. BMJ case reports. 2013. PMID: 23843404
- Aubert-Mucca M, Huber C, Baujat G. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals. Journal of medical genetics. 2023. PMID: 35927022
- Alahmadi MH, Sharma S. Ellis-van Creveld Syndrome (Chondroectodermal Dysplasia). 2026. PMID: 42475457