Costello Syndrome

Overview

Costello syndrome is a rare genetic condition that affects how a person grows and develops. It is present from birth. It can affect many parts of the body, including the heart, muscles, skin, and learning. It is one of a group of conditions called RASopathies (say: rah-SOP-uh-thees). These are caused by changes in genes that help control cell growth.

No. Costello syndrome is very rare. It affects only a small number of people worldwide.

It can affect anyone. It is present at birth. It is not caused by anything a parent did or did not do during pregnancy. Most cases happen by chance. Always talk with a qualified healthcare provider about your child's care.

Symptoms

Common symptoms

• Slow growth and poor weight gain
• Developmental delay, such as sitting, walking, or talking later than expected
• Learning difficulties
• Flexible joints and loose skin, especially on the hands and feet
• Distinctive facial features, such as a wide mouth, full lips, and a broad nose
• Heart problems present at birth or later
• Feeding problems in babies
• Skin changes, such as extra wrinkles on the palms or soles
• A higher chance of certain tumors

Symptoms in children

• Feeding trouble and reflux
• Slow growth
• Developmental and speech delays
• Loose joints and a curved spine
• Heart murmur or heart rhythm problems
• Vision problems
• Behavior that may be shy, friendly, or anxious
• A higher chance of tumors, so regular checks are important

Symptoms in older adults

• Heart problems that need ongoing checks
• Joint and muscle problems, such as tight tendons or pain
• Skin changes
• Tiredness or lower stamina
• Learning and mental health support needs
• A continued need for cancer checks
• Planning for independent living and work

Causes

Main causes

• Costello syndrome is caused by a change (variant) in the HRAS gene. This gene helps control cell growth and division. The change makes cells grow and divide in a way that is not typical.
• In most cases, the gene change happens by chance in the sperm or egg before pregnancy. It is not caused by anything the parents did.

Risk factors

• Costello syndrome is not caused by lifestyle, diet, or stress during pregnancy.
• The main risk factor is having a parent with the same condition, but this is rare.
• Most families have no history of the condition. Parents with a child with Costello syndrome can ask a genetic counselor about the chance of it happening again.

When to see a doctor

See a doctor urgently if:

• Fever in a baby or young child
• Poor feeding, repeated vomiting, or little urine
• New or worse swelling, especially in the legs or around the eyes
• A new lump or swelling anywhere
• Worsening tiredness, breathlessness, or feeding difficulty
• A heartbeat that feels too fast, too slow, or irregular
• Severe joint pain or trouble walking

Book a routine appointment if:

• If your baby is not feeding well or is not gaining weight
• If your child is missing developmental milestones
• If you notice unusual skin, joint, or facial features
• If there is a family history of Costello syndrome or related conditions
• If you have concerns about your child's growth, learning, or behavior

Diagnosis

Doctors may suspect Costello syndrome from a physical exam, growth pattern, and developmental history. A genetic test can confirm it by looking for a change in the HRAS gene. Because it is rare, a specialist in genetics or a children's doctor may be involved.

Tests that may be done

• Physical exam and growth measurements
• Genetic testing, usually from a blood or saliva sample
• Heart tests, such as an ultrasound of the heart, a heart tracing (ECG), or heart rhythm monitoring
• Hearing and vision tests
• Developmental and learning assessments
• Imaging tests, such as X-rays or scans, if needed
• Regular checks for tumors as advised by the care team

What to expect at your appointment

Diagnosis can take time. You may see several specialists. A genetic counselor can explain what the result means for your child and family. Ask questions and bring someone with you to appointments if you can.

Treatment

There is no cure for Costello syndrome. Care focuses on managing symptoms, supporting growth and development, and checking for problems early. A team of doctors and therapists usually works together.

Self-care at home

• Keep all appointments with the care team
• Follow advice on feeding, growth, and development
• Help your child stay active in ways that are safe for their joints and heart
• Protect skin from sun and injury
• Support learning and speech at home
• Ask for help when you feel overwhelmed

Medical treatments

Treatment is tailored to each person. It may include support with feeding and growth, physical, occupational, and speech therapy, educational support, heart monitoring and treatment, skin care, and orthopedic care. Doctors also watch for tumors and treat them if they appear. Mental health support for the person and family is part of good care. Your care team will explain options and monitor regularly. Always ask a qualified healthcare provider before making changes to care.

When is surgery considered?

Surgery may be needed for some heart problems, severe feeding problems, orthopedic issues, or tumors. The care team will discuss benefits and risks.

Living with this condition

Life with Costello syndrome can be busy, with many appointments. Build routines that help with feeding, sleep, therapy, and school. Celebrate small steps. Ask your care team for a written care plan.

Lifestyle tips

• Keep a folder or phone note with medical records and contact details
• Plan rest breaks and keep activities at a steady pace
• Keep up with school or work support
• Stay connected with friends and family
• Ask about financial support and short breaks for caregivers

Diet and exercise

A balanced diet and safe activity help overall health. Some people need extra calories or feeding support. A dietitian can help. Exercise should suit the person's heart and joints. Ask the care team before starting a new sport or intense activity.

Mental health and emotional wellbeing

Living with a rare condition can bring worry, sadness, or stress for the person and family. This is normal. Talk with your care team about counseling or support groups. If you or someone you care for is in crisis or thinking of harming themselves, contact a local crisis service or emergency services right away.

Prevention

Costello syndrome cannot be prevented. It is caused by a gene change that usually happens by chance. It is not caused by anything a parent did during pregnancy. Genetic counseling can help families understand the chance of it happening again.

Vaccines

There is no vaccine that prevents Costello syndrome. People with the condition should get routine vaccines as advised by their doctor, because infections can be more serious.

Screening programmes

People with Costello syndrome need regular check-ups. These may include heart checks, growth and development checks, hearing and vision tests, and checks for tumors. The care team will recommend a screening plan based on age and needs.

Complications

If left untreated

• Without regular care and monitoring, people with Costello syndrome may have more serious heart problems.
• Feeding and growth problems may become harder to manage.
• Developmental challenges may need more support.
• Joint problems may affect movement and daily life.
• There is a higher chance of tumors going unnoticed if checks are missed.

Long-term outlook

Many people with Costello syndrome live fulfilling lives with support from family and a medical team. The outlook varies from person to person. Early help with development, heart care, and regular monitoring can make a real difference. Ask your care team about what to expect for your child.

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