MAP Program for Genetic Disorders

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Nemours/Alfred I. duPont Hospital for Children is one of the only pediatric hospitals in the country to offer a MAP Program. It’s staffed by expert specialists who treat the complex needs of children with genetic syndromes associated with an important process in the body called the “Ras/MAPK signaling pathway” (short for “mitogen activated protein kinases”).

 
Learn More About Ras/MAPK

The body is made up of cells, which carry instructions, of sorts, that tell them how to grow and act. These instructions are called “genes.” The genetic syndromes associated with Ras/MAPK can affect the way a child’s organs were formed, the way kids look, the way they grow, and the way they learn.

The following genetic syndromes are all caused by changes in genes that affect the Ras/MAPK signaling pathway. And they’re all part of our comprehensive MAP Program care:

  • Cardiofaciocutaneous syndrome (CFC)
  • Costello syndrome
  • Legius syndrome
  • Neurofibromatosis type 1 (NF1)
  • Noonan syndrome

Nemours/Alfred I. duPont Hospital for Children, Wilmington


1600 Rockland Road
Wilmington, DE 19803
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For Appointments: (302) 651-4200

To ask questions or schedule an appointment, please contact the MAP Program clinic coordinator at (302) 651-5926.

 
What to Bring
  • photo ID
  • medical and pharmacy insurance cards
  • preferred pharmacy name and phone number
  • names and dosage of all medications, including over-the-counter medication, your child is currently taking
  • guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
New Patients

Bring these forms for your first appointment:

Returning Patients
 
Forms & Resources
New Patient Forms
Returning Patient Forms
Resources for Patients & Families

If your child has an Ras/MAPK-related syndrome, you can count on Nemours/Alfred I. duPont Hospital for Children and our specialized team of MAP Program specialists, nurses, genetic counselors, and therapists.

We provide comprehensive, personalized pediatric medical management for children with these very specific overlapping genetic conditions.

From diagnosis to treatment, our MAP Program experts use a coordinated care approach — with a team of specialists dedicated to addressing your child’s very specific, individualized needs.

Genetic Syndromes Treated by Our MAP Program

The following genetic syndromes are all caused by changes in genes that affect the Ras/MAPK signaling pathway. And they’re all part of our comprehensive MAP Program care:

 
Cardiofaciocutaneous syndrome (CFC)

Cardiofaciocutaneous syndrome (or CFC, for short) is a rare genetic condition that affects the heart, facial features, and skin. CFC is a defined group of congenital (present at birth) physical differences affecting many organ systems.

What are the characteristics and effects of CFC?

The physical differences of CFC include:
  • sparse eyebrows
  • really curly hair
  • areas of thick skin
  • small stature (short height)
Some children with CFC also may have:
  • congenital heart defects (heart problems they were born with)
  • seizures
  • significant trouble with learning
  • issues with feeding difficulties and failure to thrive in early childhood
  • speech delays and difficulty walking as they grow into middle and late childhood

How is CFC diagnosed?

Doctors can tell if your child has CFC by making a “clinical diagnosis.” That just means the diagnosis is based on the results of a physical examination and your child’s medical history. Then the diagnosis is confirmed by genetic testing performed on a sample of your child’s blood (taken using a routine blood test). The testing process looks for the specific mutation associated with CFC (or what makes the gene different from a “normal” gene).

How is CFC treated?

There’s no standard treatment for CFC. Based on your child’s symptoms, our team of specialists will work together and with you to develop a plan to help your child reach his or her full potential.

 
Costello syndrome

Costello syndrome (or Costello, for short) is a rare disorder that’s actually a distinct collection of congenital (present at birth) physical differences that affects multiple organ systems and causes developmental delay. Children diagnosed with Costello syndrome typically have multiple medical and developmental needs.

First described in medical literature in 1971, the cause of Costello syndrome is not yet known. If your child has been diagnosed with Costello Syndrome, you can be sure that we’ll do whatever it takes to address those needs.

Through our MAP Program, we collaborate and coordinate care with pediatric subspecialists who are knowledgeable about this rare disorder and its associated medical problems. We also participate in research related to this disorder and stay on top of ongoing Costello research and information worldwide.

What are the characteristics and effects of Costello syndrome?

Children with Costello generally have:
  • severe failure to thrive and feeding problems in early childhood
  • loose skin with deep creases in the hands
  • abnormalities in the positioning of their hands and feet
  • loose joints and low muscle tone
  • delayed milestones

During later childhood, a child may have short stature (short height), tight Achilles tendons, and skin tags. Kids with Costello syndrome also are at risk for severe medical problems (like heart rhythm abnormalities, thickened heart muscle, and tumors).

How is Costello syndrome diagnosed?

Doctors can tell if your child has Costello syndrome by making a “clinical diagnosis.” That just means the diagnosis is based on the results of a physical examination and your child’s medical history. Then the diagnosis is confirmed by genetic testing performed on a sample of your child’s blood (taken using a routine blood test). The testing process looks for the specific mutation associated with Costello syndrome (or what makes the gene different from a “normal” gene).

Because Costello syndrome is very rare, it can often take general community health care providers a long time to detect it. But getting an earlier diagnosis by our leading experts means that your child can have any related medical problems identified and treated as soon as possible.

How is Costello syndrome treated?

There is no specific treatment for Costello syndrome. Every child is different, so the appropriate medical care will depend on your child’s specific issues and physical symptoms.

 
Legius syndrome

Named after Eric Legius, a clinical geneticist in Belgium, Legius syndrome is caused by mutations (a change in the genetic instructions of the body’s cells) in a specific gene called the “SPRED1 gene.”

What are the characteristics and effects of Legius syndrome?

Children with Legius syndrome (or Legius, for short) usually have multiple “café au lait birthmarks.” The phrase “café au lait” is French for “milky coffee” and refers to the light-brown color of the birthmarks. Health care providers often initially identify these marks as neurofibromatosis type 1 (NF1). That’s why Legius is also sometimes called “neurofibromatosis type 1-like syndrome (or NFLS)”.

But there’s a distinct difference between Legius and NF1: Children with Legius syndrome don’t have the neurofibromas (round lumps under the skin) found in children with NF1. So it’s important to make the distinction between the two, since the treatment and specialists needed may be different.

Children with Legius syndrome also commonly share a set of symptoms, such as:
  • a large head (macroencephaly)
  • learning disabilities
  • attention deficit hyperactivity disorder (ADHD)
  • developmental delays

How is Legius syndrome diagnosed?

We diagnose Legius through genetic testing. And we offer all the genetic testing necessary to reach an accurate diagnosis for this often misdiagnosed genetic syndrome in children.

How is Legius syndrome treated?

We offer a coordinated, collaborative approach to treatment, with access to our genetics specialists and any other specialists your child may need, including from:

Legius syndrome does not have a specific course of treatment used for all children, since every child’s needs are different. So our team of specialists can provide all of the medical treatment, behavioral, physical and occupational therapy necessary for your child.

 
Neurofibromatosis type 1 (NF1)

Neurofibromatosis type 1 (also called NF1 or neurofibromatosis 1, for short) is a genetic disorder that affects the brain, spinal cord, nerves, skin, and other systems in the body. At duPont Hospital for Children’s MAP Program, we meet the staffing and clinical genetic consulting parameters set by the National Neurofibromatosis Foundation and Neurofibromatosis, Inc.

How is NF1 diagnosed?

Our specialists diagnose NF1, often based on the unique symptoms and signs of neurofibromatosis, including:
  • colored, raised spots (Lisch nodules) on the colored part (iris) of the eye
  • fracture of the long bones of the leg in early childhood
  • many brown birthmarks (“café au lait birthmarks” that are the color of milky coffee) or freckling in the armpits or groin
  • large lumps/tumors under the skin (neurofibromas), which can affect a child’s appearance and put pressure on nearby nerves or organs. As the tumors increase in size, they can cause problems in the way the body functions. These tumors are almost always benign (noncancerous) – it’s rare for them to become malignant (cancerous).
  • mild cognitive impairment, attention deficit hyperactivity disorder (ADHD), and learning disorders

Tests may include an eye exam by an ophthalmologist familiar with NF1, genetic tests to find a change (mutation) in the neurofibromin gene, and other specific tests for some of the side effects of the condition.

How is NF1 treated?

Children with NF1 often have multiple medical and developmental needs.

We address those needs with a collaborative program in which your child has access to the expertise of specialists in:
Working together, we create a course of treatment for your child that includes:
  • removing the neurofibromas for cosmetic purposes
  • treating any complications the neurofibromas may have caused, including scoliosis (abnormal curving of the spine) and long bone deformities

We’ll then monitor your child for any cancerous changes in the tumors and provide support for any speech or learning disabilities and self-esteem issues.

As your child approaches 18 years old, we’ll work with you to transition your child to adult care. Adult patients with NF1 are referred to local specialists in Delaware or to adult genetics centers in Philadelphia.

Note: Because neurofibromatosis type 2 (NF2), a variation of the disease that causes tumors on the nerves in the ear, typically doesn’t begin to show symptoms until adulthood, we do not see patients with NF2 at our program. However, we can refer children with this disorder to other doctors and facilities as necessary.

 
Noonan syndrome

Noonan syndrome (or NS, for short) is named after Dr. Jacqueline Noonan, a pediatric cardiologist best known for her work in defining the condition. It’s believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS.

Noonan syndrome is one of the most common genetic syndromes associated with congenital heart disease. But because the range and severity of features can vary greatly in people with NS, the syndrome is not always identified at an early age.

What are the characteristics and effects of Noonan syndrome?

Noonan syndrome is marked by a particular set of physical characteristics, such as short stature, with a webbed neck and a flat nose bridge. In fact, NS is considered to be a type of dwarfism, which affects both girls and boys equally.

Some children have low-set ears and/or droopy upper eyelids, impaired blood clotting, learning problems, and mental disability.

Noonan syndrome is also associated with heart defects and learning problems, so an accurate diagnosis is important.

How is Noonan syndrome diagnosed?

We’ll perform genetic testing and initial screening to verify the presence of Noonan syndrome.

How is Noonan syndrome treated?

Because each child’s specific symptoms are different, there’s no standard treatment for Noonan syndrome. Your child may have multiple medical needs and we’ll address them all.

After diagnosis, we’ll help coordinate appointments with various specialists to follow a care plan specifically tailored to your child’s individual needs.

Whatever kind of genetic syndrome your family is facing, know that at Nemours we do whatever it takes to give your child the very best, most comprehensive and compassionate care possible. We treat every child as we would our own – your child, our promise.