Beals Hecht Syndrome Images, Life, Expectancy, Symptoms, Causes, Treatment
Beals hecht syndrome is a connective tissue disease. It is a rare syndrome and also known as congenital contractual arachodactyly. It is a congenital disease. People with beals hecht syndrome have long fingers, toes and arms as compared to their height. This syndrome was named after 2 scientists i.e. beals and hecht. Beals hecht syndrome closely resembles with marfan syndrome. The only difference is mutation in different genes. Mutation in FBN2 gene causes beals hecht syndrome. People with beals hecht syndrome may have permanently bent joints and cause problems in hip, elbow, ankle and elbow movement.
Beals hecht syndrome is easy to diagnose because it shows visible symptoms. Common symptoms of beals hecht syndrome are:
All the above mentioned symptoms also resembles with symptoms of marfan syndrome.
Beals hecht syndrome is a congenital disease and specific gene mutation is the cause. It is an autosomal dominantly inherited single gene disorder. FBN2 is the gene which is responsible for causing beals hecht syndrome. Specifically chromosome no. 5q23 on FBN2 gene mutation causes beals hecht syndrome. As it is a congenital disease, so it transfer from parents to their off springs during pregnancy. It is inherited in an autosomal dominant pattern. Autosomal dominant pattern means even a single pair of altered gene in a single cell can cause beals hecht syndrome.
It is a congenital disease so it cannot be treated but can only be improved. Physical therapy is used to treat joint contractures. Physical therapy helps a lot to improve mobility and response activity of under developed muscles. Surgery is also preferred in the form of braces. Surgery corrects kyphoscoliosis (scoliosis is the curved spine). Electrocardiogram is used to test enlargement of aorta in case of new Borns for up to 2 years. It helps in controlling risks of enlarged aorta. If infant already have enlarged aorta, then it is managed with standard treatment and care.
Beals hecht syndrome is a genetic disease and in most cases it is not fatal because it's treatment is effective. Life expectancy is totally dependent on the severity of disease and symptoms of disease. Life expectancy is not short because of successful treatment strategy design. Physical therapy helps a lot in resolving symptoms and reducing severity. Physical therapy have greater success rates as compare to surgery. Beals hecht syndrome occurs equally in men and women. Patient should have to go for yearly heart check up. Yearly check up helps to reduce cardio vascular complications.
Beals Hecht Syndrome Symptoms
Beals hecht syndrome is easy to diagnose because it shows visible symptoms. Common symptoms of beals hecht syndrome are:
- Patient have long and narrow body physique.
- Chest may sink in or stick out.
- Long and slender fingers and toes are the most common symptoms.
- Patient have reduced bone mass.
- Patient may have curved spine.
- Patient's face show abnormalities.
- Enlargement of aorta and regurgitation of mitral valve.
- Patient may have lateral or backward curved spine which may develop either at birth or in early childhood stage.
- Crumpled appearance on the top of the patient's ear.
All the above mentioned symptoms also resembles with symptoms of marfan syndrome.
Beals-Hecht Syndrome Images
Beals Hecht Syndrome Causes
Beals hecht syndrome is a congenital disease and specific gene mutation is the cause. It is an autosomal dominantly inherited single gene disorder. FBN2 is the gene which is responsible for causing beals hecht syndrome. Specifically chromosome no. 5q23 on FBN2 gene mutation causes beals hecht syndrome. As it is a congenital disease, so it transfer from parents to their off springs during pregnancy. It is inherited in an autosomal dominant pattern. Autosomal dominant pattern means even a single pair of altered gene in a single cell can cause beals hecht syndrome.
Beals Hecht Syndrome Treatment
It is a congenital disease so it cannot be treated but can only be improved. Physical therapy is used to treat joint contractures. Physical therapy helps a lot to improve mobility and response activity of under developed muscles. Surgery is also preferred in the form of braces. Surgery corrects kyphoscoliosis (scoliosis is the curved spine). Electrocardiogram is used to test enlargement of aorta in case of new Borns for up to 2 years. It helps in controlling risks of enlarged aorta. If infant already have enlarged aorta, then it is managed with standard treatment and care.
Beals Hecht Syndrome Life Expectancy
Beals hecht syndrome is a genetic disease and in most cases it is not fatal because it's treatment is effective. Life expectancy is totally dependent on the severity of disease and symptoms of disease. Life expectancy is not short because of successful treatment strategy design. Physical therapy helps a lot in resolving symptoms and reducing severity. Physical therapy have greater success rates as compare to surgery. Beals hecht syndrome occurs equally in men and women. Patient should have to go for yearly heart check up. Yearly check up helps to reduce cardio vascular complications.
Beals Hecht Syndrome Images, Life, Expectancy, Symptoms, Causes, Treatment
Reviewed by Simon Albert
on
June 22, 2019
Rating:
Reviewed by Simon Albert
on
June 22, 2019
Rating:
