Trisomy 4p

Healthcare/Doctors

How do I find a center of excellence in trisomy 4p?

If you are pregnant with a child who has trisomy 4p, you may be referred to a maternal fetal medicine doctor (MFM). These doctors specialize in pregnancies that require special care. You may also see a medical genetics team. This team can help with diagnosis and counseling of families.

Depending on a person's symptoms, different specialists can be consulted. For example, if a child has problems with his bones, such as a curved spine, he can see an orthopedic doctor. For dental problems, he would see a dentist or orthodontist. For heart defects, a heart doctor (cardiologist) can be seen.

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What specialist doctors should I see with trisomy 4p?

If I have trisomy 4p, what should my doctor know about managing the disease?

What specialist doctors should I see with trisomy 4p?

If you are pregnant with a child who has trisomy 4p, you may be seen by a maternal fetal medicine doctor (MFM). These doctors specialize in pregnancies that require special care. You may also see a medical genetics team to help with diagnosis and counseling of families. To find a genetic counselor near you, use the "Find a Genetic Counselor" tool on the National Society of Genetic Counselors' website.

Depending on the symptoms, different specialists can be seen. For example, if a child has problems with their bones, such as a curved spine, they can see an orthopedic doctor. For dental problems, they can see a dentist or orthodontist. For heart defects at birth, they may need to see a cardiologist. If they have differences in the brain, they will need to see a neurologist.

If I have trisomy 4p, what should my doctor know about managing the disease?

If you have trisomy 4p, your doctor should be knowledgeable about your individual symptoms. It is important for them to know that it is sometimes difficult to give anesthesia (pain relief) to people with trisomy 4p. Special care should be taken if pain relief is needed for surgery. Your doctor should watch for delayed development, such as walking later than typical, and intellectual disability. They should also look out for seizures. Sometimes, people with trisomy 4p can lose mobility in their joints. This makes their limbs either permanently straight or bent. Your doctor should watch for this so that treatment can start as soon as possible.

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