What is Chondroectodermal Dysplasia? Chondroectodermal Dysplasia, also known as Ellis-van Creveld Syndrome, is a rare genetic disorder that affects bone and cartilage development. This condition leads to various physical abnormalities, including short stature, extra fingers, and heart defects. Inherited in an autosomal recessive manner, both parents must carry the mutated gene for a child to be affected. First described in 1940 by Richard W. Ellis and Simon van Creveld, this syndrome is more common among the Old Order Amish population. Understanding its symptoms, genetic basis, and treatment options can help manage the condition effectively and improve the quality of life for those affected.
Key Takeaways:
- Chondroectodermal Dysplasia, also known as Ellis-van Creveld syndrome, is a rare genetic disorder affecting bone and cartilage development, leading to physical and health issues. It is inherited in an autosomal recessive manner and can result in skeletal abnormalities, heart defects, and other physical features.
- Individuals with Chondroectodermal Dysplasia may experience short stature, nail and teeth abnormalities, extra fingers, and heart defects. Proper diagnosis, ongoing monitoring, and comprehensive medical and psychological care are crucial for managing the condition and improving the quality of life.
What is Chondroectodermal Dysplasia?
Chondroectodermal dysplasia, also known as Ellis-van Creveld syndrome, is a rare genetic disorder. It affects the development of cartilage and bone, leading to various physical and health issues. Here are some key facts about this condition.
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Definition: Chondroectodermal dysplasia is a genetic disorder that affects the conversion of cartilage to bone during growth, leading to various skeletal and ectodermal abnormalities.
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Genetic Basis: The condition is inherited in an autosomal recessive manner, meaning a child must receive an abnormal gene from each parent to develop the condition.
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Incidence: The incidence of chondroectodermal dysplasia is estimated to be around 0.9 cases per 100,000 live births, although it is more common in the Old Order Amish population.
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First Description: The condition was first described by Richard W. Ellis and Simon van Creveld in 1940, who used the term "Chondroectodermal dysplasia" to illustrate its main features.
Genetic and Physical Characteristics
Understanding the genetic and physical characteristics of chondroectodermal dysplasia helps in diagnosing and managing the condition.
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EVC Genes: The genes responsible for the condition are EVC and EVC2, which are highly expressed in bone and heart tissues and are involved in bone growth mediated at the base of primary cilia.
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Symptoms: The most common symptoms include short stature, nail and teeth abnormalities, extra fingers (polydactyly), and heart defects.
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Physical Characteristics: Individuals with chondroectodermal dysplasia often have a disproportionately long trunk relative to their shortened extremities. They may also have rudimentary or absent fingernails and eyebrows, and scanty hair.
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Skeletal Abnormalities: The condition affects the development of cartilage and bone, leading to various skeletal abnormalities such as knock-knee (genu-valgum), which can be very severe.
Heart and Orthopaedic Manifestations
Heart defects and orthopaedic issues are significant concerns for individuals with chondroectodermal dysplasia.
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Heart Defects: Up to 50% of patients with chondroectodermal dysplasia also have heart defects, which can be life-threatening and require surgical intervention.
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Orthopaedic Manifestations: The condition is characterized by orthopaedic manifestations such as diminished ossification of primary centers of ossification in the hand, increased ossification of secondary centers of ossification, polymetacarpalia, synmetacarpalism, and epiphyses embedded into the metacarpal.
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Polydactyly: Extra fingers (polydactyly) are a common feature of the condition, with some individuals having manual polydactyly.
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Nail Malformation: Nail malformation is another common feature, with individuals often having rudimentary or absent fingernails and toenails.
Teeth, Hair, and Other Abnormalities
Chondroectodermal dysplasia also affects teeth, hair, and other physical features.
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Teeth Abnormalities: Teeth abnormalities are also prevalent, with individuals often having defective teeth.
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Hair Abnormalities: Hair abnormalities include sparsity of hair on the head, eyebrows, axillae, pubis, and body generally, although the feature is never severe and is inconsistent.
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Gingivolabial Sulcus: The gingivolabial sulcus is often obliterated, which can lead to dental and oral health issues.
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Congenital Malformations: The condition is associated with multiple congenital malformations, including heart defects, skeletal abnormalities, and ectodermal dysplasia.
Ethnic Predisposition and Pedigree
Certain populations are more affected by chondroectodermal dysplasia due to genetic factors.
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Ethnic Predisposition: While there is no ethnic predisposition for the condition, it has been found to be more common among the Old Order Amish population.
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Pedigree: The origins of the disorder and its particular pedigree were traced to one Samuel King and his wife, who emigrated from Europe in 1744.
Clinical Features and Intelligence
The clinical features and cognitive aspects of chondroectodermal dysplasia vary among individuals.
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Clinical Features: The main clinical features of chondroectodermal dysplasia include chondrodysplasia, sixth finger on the ulnar side of each hand, defective teeth and nails, and congenital heart disease.
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Intelligence: Intelligence has been reported as being within normal limits in most cases, although some patients have been reported to be mentally backward.
Diagnosis and Treatment
Proper diagnosis and treatment are crucial for managing chondroectodermal dysplasia effectively.
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Life Expectancy: The life expectancy for individuals with chondroectodermal dysplasia varies widely, with some individuals living into their late teens and beyond, while others may not survive infancy.
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Diagnosis: Diagnosis of chondroectodermal dysplasia requires a physical exam and X-rays of the lower extremities to monitor knock-knee and other skeletal abnormalities.
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Treatment: Treatment for chondroectodermal dysplasia typically involves surgical procedures to correct orthopaedic conditions such as knock-knee, remove extra fingers, and correct heart defects.
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Surgical Procedures: Surgical procedures may include osteotomies to correct the abnormal angle of the knees, although there is a high rate of recurrence and additional surgeries may be necessary.
Monitoring and Genetic Testing
Ongoing monitoring and genetic testing play a vital role in managing the condition.
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Monitoring: Children with chondroectodermal dysplasia should be monitored closely to address any emerging health issues and guide their growth due to misalignment and malrotation of the lower extremities.
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Genetic Testing: Genetic testing can confirm the diagnosis by identifying mutations in the EVC and EVC2 genes.
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Family History: A family history of the condition can indicate a higher risk, especially if both parents are carriers of the mutated genes.
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Prenatal Diagnosis: Prenatal diagnosis is possible through genetic testing, which can help families prepare for the birth of a child with chondroectodermal dysplasia.
Support Systems and Research
Support systems and ongoing research are essential for improving the quality of life for individuals with chondroectodermal dysplasia.
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Support Systems: Individuals with chondroectodermal dysplasia and their families often require support systems, including medical care, physical therapy, and psychological support.
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Research: Ongoing research aims to better understand the genetic mechanisms underlying chondroectodermal dysplasia and to develop more effective treatments for the condition.
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Clinical Trials: Participation in clinical trials can provide access to new treatments and therapies for individuals with chondroectodermal dysplasia.
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Community Support: Joining support groups and communities can connect individuals with others who have similar experiences, providing emotional support and practical advice.
Medical and Psychological Care
Comprehensive medical and psychological care is crucial for managing chondroectodermal dysplasia.
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Medical Care: Regular medical care is crucial for managing the condition, including regular check-ups with a pediatrician or orthopedic specialist.
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Physical Therapy: Physical therapy can help improve mobility and manage skeletal abnormalities, such as knock-knee.
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Dental Care: Regular dental care is essential to address any dental issues related to the condition, such as defective teeth.
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Cardiac Care: Cardiac care is critical for managing heart defects associated with chondroectodermal dysplasia, which may require surgical intervention.
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Nutritional Support: Nutritional support is important to ensure proper growth and development, especially in children with the condition.
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Psychological Support: Psychological support is essential to help individuals cope with the physical and emotional challenges associated with chondroectodermal dysplasia.
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Educational Resources: Access to educational resources can help families understand the condition better and make informed decisions about their child's care.
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Advancements in Treatment: Advances in medical technology and genetic research are continually improving treatment options for individuals with chondroectodermal dysplasia, offering hope for better outcomes and improved quality of life.
Final Thoughts on Chondroectodermal Dysplasia
Chondroectodermal dysplasia, or Ellis-van Creveld syndrome, is a rare genetic disorder with significant impacts on skeletal and ectodermal development. Understanding its genetic basis, symptoms, and treatment options is crucial for managing the condition effectively. From short stature and polydactyly to heart defects and dental issues, the challenges are numerous. However, with proper medical care, surgical interventions, and support systems, individuals can lead fulfilling lives. Advances in genetic research and medical technology continue to offer hope for better treatments and outcomes. Families and healthcare providers must stay informed and proactive in addressing the unique needs of those affected. By fostering a supportive environment and accessing available resources, individuals with chondroectodermal dysplasia can navigate their journey with resilience and optimism.
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