Ellis-Van Creveld syndrome

Ellis-Van Creveld Syndrome: A Rare Genetic Disorder

Ellis-Van Creveld syndrome, also known as chondroectodermal dysplasia, is a rare genetic disorder that affects bone growth and development. It is characterized by several distinct features, including:

• Short stature: People with Ellis-Van Creveld syndrome have very short stature, often referred to as dwarfism.
• Polydactyly: Extra fingers or toes are a common feature of this condition.
• Malformed fingernails and toenails: The nails may be small, thin, or absent.
• Dental abnormalities: Prenatal eruption of teeth is a common occurrence in individuals with Ellis-Van Creveld syndrome.
• Congenital heart defects: Heart problems are present in over half of the patients.
• Short ribs and short tubular bones: Radiologic abnormalities that can be observed in individuals with this condition.

This rare genetic disorder is caused by genetic mutations, which can be hereditary or occur randomly. It is more common in isolated human populations, such as the Amish and some small island inhabitants, due to founder effects.

References:

• [1] Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities.
• [3] Chondroectodermal dysplasia is a hereditary condition. A physical exam and X-rays are used to diagnose chondroectodermal dysplasia and monitor associated symptoms, like knock-knee.
• [13] Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities.
• [14] Ellis-van Creveld (EVC) syndrome is characterized by postaxial polydactyly of the hands, disproportionate short stature, features of ectodermal dysplasia, congenital heart disease, and radiologic abnormalities (such as short ribs and short tubular bones).
• [15] Ellis-van Creveld syndrome, also known as "chondroectodermal dysplasia," is a rare genetic disorder characterized by short-limb dwarfism, polydactyly (additional fingers or toes), malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation, and often prenatal eruption of the teeth.

Ellis-Van Creveld syndrome is characterized by several distinct signs and symptoms, which can vary in severity from person to person.

Physical Characteristics

• Short stature: Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal [1].
• Narrow chest: A narrow chest may occur, along with a shortened length between the neck and abdomen [1].
• Extra fingers (polydactyly): Extra fingers are present in all patients with this condition, and both hands are usually affected [1].

Other Signs and Symptoms

• Missing and/or malformed nails: Dental abnormalities and congenital heart defects may also be present [2].
• Dental abnormalities: These can include missing or malformed teeth, as well as other dental issues [4].
• Congenital heart defects: Heart problems, such as a hole in the heart (atrial septal defect), may occur [3].

Radiographic Features

• Progressive distal shortening of the long bones: The long bones in the arms and legs can become progressively shorter over time [5].
• Radial head dysplasia and subluxation: The radial bone in the forearm can be misshapen or dislocated [5].
• Postaxial polydactyly with polymetacarpalia and synmetacarpalism: Extra fingers or toes may be present, along with other abnormalities of the hand bones [5].

Other Complications

• Limited range of motion: Individuals with Ellis-Van Creveld syndrome may experience limited movement in their joints [9].
• Nail abnormalities: Malformed or missing nails can occur [9].

It's essential to note that each person with Ellis-Van Creveld syndrome is unique, and not everyone will exhibit all of these signs and symptoms. If you suspect someone has this condition, it's crucial to consult a medical professional for proper diagnosis and care.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 12 [5] Context result 5 [9] Context results 13 and 9

Diagnostic Tests for Ellis-Van Creveld Syndrome

Ellis-van Creveld syndrome can be diagnosed through a combination of physical examination, medical history, and various diagnostic tests.

• Physical Examination: A thorough physical exam by a healthcare provider may reveal signs such as short stature, short limbs, polydactyly (extra fingers or toes), and other characteristic features.
• Imaging Studies: Imaging tests like chest x-rays, echocardiograms, and skeletal x-rays can help identify abnormalities in the heart, lungs, and bones. These tests can show narrow chest, short ribs, short tubular bones, bulbous ends of the proximal ulnae and distal radii, carpal and metacarpal fusions, and other skeletal anomalies.
• Genetic Testing: Genetic testing may be performed to identify mutations in one or both EVC genes. This can confirm a diagnosis of Ellis-van Creveld syndrome and help determine the genetic cause of the condition.

Additional Diagnostic Tests

Other diagnostic tests that may be used to support a diagnosis of Ellis-van Creveld syndrome include:

• Ultrasound: Prenatal ultrasound examination can detect abnormalities such as narrow thorax, shortening of long

Treatment Overview

The treatment of Ellis-Van Creveld (EVC) syndrome focuses on managing its various symptoms and complications, which can be quite diverse among individuals. The approach is often multidisciplinary, involving a team of medical professionals to address the specific needs of each patient.

• Surgical Procedures: Surgery may be required to correct heart defects, remove extra fingers (polydactyly), and address lower extremity issues such as misalignment and malrotation.
• Monitoring and Support: Regular monitoring by orthopedic specialists is crucial for managing bone deformities. Physical and occupational therapists can also play a significant role in supporting patients with EVC syndrome.

Specific Treatments

• Heart Defects: Surgical correction of heart defects is a critical aspect of treating EVC syndrome.
• Polydactyly: Surgery to remove extra fingers is often necessary.
• Lower Extremity Issues: Surgical procedures may be required to correct misalignment and malrotation of the lower extremities.

Management Approach

The management of EVC syndrome is symptomatic, focusing on addressing respiratory distress due to narrow chest and heart failure in the neonatal period. Orthopedic follow-up is also essential for managing bone deformities.

Challenges and Considerations

• Complexity: The complexity of EVC syndrome means that treatment plans can vary significantly among individuals.
• Multidisciplinary Approach: A team of medical professionals is often required to address the diverse symptoms and complications associated with EVC syndrome.

References

• [1] Treatment of Ellis-Van Creveld syndrome is directed toward specific symptoms, requiring coordinated efforts from various medical professionals.
• [2] Surgical procedures are necessary for correcting heart defects, removing extra fingers, and addressing lower extremity issues.
• [3] Monitoring by orthopedic specialists is crucial for managing bone deformities.
• [4] Regular monitoring and support from physical and occupational therapists can also be beneficial.

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