Definition

What is Costello syndrome?

Costello syndrome, also known as faciocutaneoskeletal (FCS) syndrome, is an extremely rare disorder that affects multiple organ systems of the body. This condition is characterized by growth delays after birth; short stature; extra loose skin on the neck, palms of the hands, fingers, and soles of the feet; noncancerous tumors (papillomata) around the face and anus; developmental delay and intellectual disability; and a characteristic facial appearance.

How common is Costello syndrome?

Costello syndrome is extremely rare. It is thought to affect 200 to 300 people worldwide, but more cases may remain undiagnosed. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Costello syndrome?

Most of the signs of Costello syndrome are not noticeable at birth, but they appear as a child starts to grow.

Birth weight is usually normal or a little above average, but the infant will grow more slowly than most children.

Symptoms include:

  • Short height and slow growth
  • Intellectual disability
  • Developmental delay
  • Difficulty feeding in infancy
  • Large head
  • Loose skin, especially on the hands and feet
  • Deep creases on the palms of the hands and soles of the feet
  • Low ears, thick earlobes, or both
  • Flexible joints
  • Large mouth
  • The surface of face feels rough
  • Squint
  • Heart problems, including abnormal heart rhythm
  • Dental problems
  • Tight achilles tendon
  • Thick calluses and toenails

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Costello syndrome?

Costello syndrome is a genetic disorder resulting from mutations in the HRAS gene. This is the gene that instructs the body to produce a protein known as H-Ras. H-Ras aids cell growth and division.

The HRAS gene mutations that occur in Costello syndrome cause cells to grow and divide all the time, not only when they have been instructed to do so.

This can lead to both cancerous and noncancerous tumor growth, and probably underlies the other symptoms.

The HRAS gene mutation can also affect the production of elastic fibers in tissue. These fibers are vital to structures such as the lungs, skin, and large blood vessels, including the aorta.

The fibers are important for keeping hair and skin strong and preventing early breakage and for maintaining the integrity and strength of blood vessels and lung tissue.

Only one copy of the mutated HRAS gene needs to be inherited for Costello syndrome to develop. This type of gene inheritance is known as autosomal dominant.

Most cases of Costello syndrome stem from new mutations, where there is no family history of the condition.

Risk factors

What increases my risk for Costello syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Costello syndrome diagnosed?

Costello syndrome is very rare, so it is unlikely that a doctor would suspect it at once.

A physician will start by assessing the child’s height, the size of the head, and birth weight.

The next stage involves molecular genetic testing. Sequence analysis is carried out on the HRAS gene to see if there is a mutation that relates to Costello syndrome.

How is Costello syndrome treated?

There is no cure for Costello syndrome, nor any specific treatment, but aspects of the syndrome, for example, the heart conditions, hypertrophic cardiomyopathy, can be treated specifically.

Ways of helping the individual to manage the condition include:

  • Helping a child to overcome feeding difficulties during infancy
  • Treatment for heart problems
  • Providing special education

Researchers are looking for an effective way of treating the condition at a genetic level.

Other interventions include:

  • Occupational and physical therapy
  • Surgery to lengthen the achilles tendon

Removal of papillomas with cryotherapy

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Costello syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 11, 2018 | Last Modified: February 11, 2018

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