Chromosome 1p36 deletion syndrome

Healthcare/Doctors

How do I find a center for excellence in chromosome 1p36 microdeletion syndrome?

Chromosome 1p36 microdeletion syndrome is rare. That means that there are not usually clinics that specialize in just this disorder. The main doctors who treat this disease are called medical geneticists. People with this disorder have many different health problems that affect different parts of their body. This means that medical geneticists often work with different types of doctors to treat this disorder. They can help direct you to the types of doctors you need to see. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

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Should people with chromosome 1p36 microdeletion syndrome see any medical specialists?

If someone has chromosome 1p36 microdeletion syndrome, what should their primary care provider know about managing the disease?

Should people with chromosome 1p36 microdeletion syndrome see any medical specialists?

People with chromosome 1p36 microdeletion syndrome should see medical specialists. The types of doctors they need to see depend on their health problems. Not all affected people have the same health problems. People with this disorder may need to see the following types of specialists:

  1. Medical geneticist and genetic counselor
  2. Specialists in cognitive, language, and motor development and social skills
  3. Cardiologist to examine the heart
  4. Neurologist to check for seizures and brain abnormalities
  5. Gastrointestinal and feeding specialists
  6. Ophthalmology to assess the eyes
  7. Otolaryngologist and audiologist for formal hearing evaluations and ear concerns
  8. Nephrologist/urologist to check kidneys
  9. Orthopedist if skeletal problems are noted
  10. Endocrinologist if thyroid problems are seen.

A medical geneticist and genetic counselor can help direct you to the right kind of specialists for this disorder. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

If someone has chromosome 1p36 microdeletion syndrome, what should their primary care provider know about managing the disease?

If someone has chromosome 1p36 microdeletion syndrome, tell their main doctor. Their doctor should know that this disorder can affect many parts of the body. Referrals to many specialists will be needed. Their doctor should make sure to check their growth. They should also do thyroid function screens. Their doctor should know that developmental delay and intellectual disability are part of this disorder. Early treatment and supportive services will be needed as soon as possible. Their doctor can refer them to a medical geneticist. Medical geneticists can help organize their care. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

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