Costello Syndrome

June 29, 2020
Janelle Thomas MSN, RN
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When you finally meet your newborn for the first time, it can feel magical. They are so innocent and full of potential. You think about all the exciting and scary moments that are to come, but more than anything, you just wonder at their beauty. As you look at their fresh face, you notice that some features seem a little exaggerated — their nostrils are wider, and lips are a bit fuller than expected, but you love them all the same.

As months go by and your baby begins missing crucial development milestones, you begin to wonder if something isn’t right. The issue may be a rare genetic disorder called Costello syndrome. What causes it, and what can you do for your child?

What causes Costello syndrome?

Costello syndrome is a rare genetic disorder that occurs when there is a gene mutation to the HRAS gene — either from a new gene mutation or an existing mutation passed down from a parent. This mutation occurs randomly and cannot be prevented beforehand. It only impacts about 200–300 people worldwide but can cause complications such as an enlarged heart. It also affects muscles, bones, skin, brain, and the spinal cord.

Symptoms of Costello Syndrome

If your baby has Costello syndrome, you may notice they have trouble feeding. They also may have certain features at birth or shortly after — including wide nostrils, a large head, thick lips, loose skin, flexible joints, and wrists that angle toward the pinky. As time goes by, you may also notice:

  • Short height and slow growth
  • Intellectual disabilities
  • Developmental delays
  • Deep creases on the palms of the hands and soles of the feet
  • Low ears, thick earlobes, or both
  • A larger mouth
  • The surface of their face feels rough
  • Squinting
  • Heart problems — including an abnormal heart rhythm
  • Dental problems
  • A tight Achilles tendon
  • Thick calluses and toenails
  • Low levels of growth hormone
  • High insulin levels, leading to low blood sugar levels
  • Thickened heart muscle and other heart problems
  • Brain and spinal cord changes

Costello Syndrome Diagnosis

If you think your child may have Costello syndrome, you should take them to their pediatrician to discuss their medical history, symptoms, and get an exam. Your doctor may order genetic testing to identify if there has been a gene mutation. They may also suggest seeing a specialist for imaging tests, including:

Costello Syndrome Treatment

If your child does have Costello syndrome then the pediatrician will work with you to get the treatment your child needs. There is currently no cure for Costello syndrome, but some treatments include:

  • Using a g-tube to ensure your child gets the nutrients they need to grow
  • Medications or surgery to assist heart problems
  • Occupational or physical therapy to improve strength
  • Surgery to lengthen the Achilles tendon to make it easier to walk, run, and play
  • Freezing of skin tags to remove skin that may be unsightly or causing issues

Your child will also need regular checkups to identify any changes in the heart muscle or heart’s rhythm, and early signs of muscle, nerve, or bladder cancer. Meeting with a genetic counselor can also help you learn what to expect and understand how to provide the best care for your child.

Contact Care Options for Kids for Home Health Care

It can be hard to balance your time between work, home, and caring for a child. That is why our team of skilled professionals at Care Options for Kids is here to help.

Our home care services offer support in the comfort of your home. We hire loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you or a loved one are considering pediatric home health care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.