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(Q77.6) Chondroectodermal dysplasia
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37 652 in individuals diagnosis chondroectodermal dysplasia confirmed
2 760 deaths with diagnosis chondroectodermal dysplasia
7% mortality rate associated with the disease chondroectodermal dysplasia
Diagnosis chondroectodermal dysplasia is diagnosed Women are 21.26% more likely than Men
14 824
Men receive the diagnosis chondroectodermal dysplasia
1 527 (10.3 %)Died from this diagnosis.
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22 828
Women receive the diagnosis chondroectodermal dysplasia
1 233 (5.4 %)Died from this diagnosis.
Risk Group for the Disease chondroectodermal dysplasia - Men aged 5-9 and Women aged 10-14
In Men diagnosis is most often set at age 0-19, 25-34
Less common in men the disease occurs at Age 20-24, 35-95+Less common in women the disease occurs at Age 40-44, 55-59, 70-79, 85-95+
In Women diagnosis is most often set at age 0-39, 45-54, 60-69, 80-84
Disease Features chondroectodermal dysplasia
Absence or low individual and public risk
Chondroectodermal dysplasia - what does this mean
Chondroectodermal dysplasia is an inherited disorder caused by a mutation in the eftud2 gene. it affects the development of bones, cartilage, and connective tissue, leading to short stature, abnormal growth of the ribs, and abnormalities of the fingers and toes. it is also associated with hearing loss, pulmonary valve stenosis, and other heart problems.
What happens during the disease - chondroectodermal dysplasia
Chondroectodermal dysplasia is a rare genetic disorder caused by a mutation in the eftud2 gene. this mutation affects the development of cartilage and bone, leading to skeletal abnormalities such as short stature, joint contractures, and malformations of the rib cage and vertebrae. it is also associated with abnormalities of the heart, eyes, and urinary system. the exact mechanism of the disease is still unknown, but it is thought to be caused by a defect in the synthesis of collagen and other proteins required for the development of cartilage and bone.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- X-ray imaging to detect skeletal abnormalities
- CT scan to assess for any soft tissue abnormalities
- Ultrasound imaging to identify any internal organ abnormalities
- Genetic testing to confirm the diagnosis
- Blood tests to rule out other possible causes
Treatment and Medical Assistance
Main goal of the treatment: To improve the physical and functional abilities of the patient with Chondroectodermal dysplasia.
- Physical therapy
- Occupational therapy
- Speech therapy
- Surgery to correct skeletal abnormalities
- Medications to control pain
- Assistive devices and orthotics
- Counseling and support
28 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Chondroectodermal dysplasia - Prevention
Prevention of chondroectodermal dysplasia is primarily achieved through genetic counseling and pre-natal testing. couples who have a family history of the disorder should seek genetic counseling to understand their risk of having a child with chondroectodermal dysplasia, and if necessary, pre-natal testing can be done to determine if the fetus is affected.