Costello's Syndrome

Costello syndrome is a genetic disorder that can cause a series of symptoms, including developmental disorders, facial characteristic abnormalities, mental retardation, and heart problems. This condition occurs since the baby is still in the womb.

Costello syndrome is very rare and is estimated to only affect 1 in 2.5 million people. This gene disorder can affect a number of systems in the body, including the brain, heart, muscles, skin, and spinal cord.

People with Costello syndrome are known to be at high risk of experiencing certain types of cancer, such as rhabdomyosarcoma (cancer of the skeletal muscles) and neuroblastoma (cancer of the nervous system). Although there is no method for dealing with this condition, proper treatment can help relieve the symptoms you are experiencing.

Causes of Costello's Syndrome

Costello syndrome is caused by mutations in the HRAS gene. Patients with Costello syndrome, both men and women, have a 50% risk of developing this condition in each pregnancy. However, Costello syndrome also often occurs due to new mutations in the genes of the fetus from parents who did not have this condition.

The HRAS gene functions to produce H-Ras, a protein that helps control cell growth and division. HRAS mutations cause the H-Ras protein to be continuously active so that cells continue to grow and divide. These conditions can trigger the growth of benign tumors or malignant tumors.

It is not known exactly how mutations in the HRAS gene cause Costello syndrome. However, experts suspect that this condition occurs due to uncontrolled cell growth and division.

Costello Syndrome Symptoms

Costello syndrome can be detected before the baby is born through a pregnancy ultrasound. Symptoms that can be seen include:

Excess amniotic fluid in the uterus which can cause hydrops fetalis and polyhydramnios
Thickening of the neck area of the fetus
The size of long bones, such as femurs that are shorter than normal
Abnormalities of the heart and kidneys
Fast fetal heart rate
Lymphatic dysplasia or abnormal cell growth around the lymph

Meanwhile, the symptoms of Costello syndrome that can be seen after birth include:

Abnormalities of the head, such as:

Large head size ( macrocephaly )
The ear position is lower than the normal position
Large and thick earlobes
Wide mouth
Thick lips
Big nostrils
Crossed eyes (strabismus)
Uncontrolled eye movement (nystagmus)
Hair loss and sagging facial skin which causes sufferers to look like an elderly person

Developmental disorders, in the form of:

It's hard to gain weight and height
Difficulty eating
Mental retardation
Early puberty
Delay in walking or talking

Disorders of the musculoskeletal system, including:

Osteoporosis to fractures
Tension on the Achilles tendon at the ankle
Curved ( kyphosis ) or curvature of the spine ( scoliosis )
The wrist bends towards the little finger
Weak muscle contractions
Joints are very flexible

Nervous system disorders, including:

Accumulation of cerebrospinal fluid ( hydrocephalus )
seizures
Unbalance in walking
Numbness or tingling in hands and feet

Heart defects, such as:

Heart rhythm disturbances
Chest pain
Congenital heart disease
Cardiomyopathy

Skin disorders, for example:

Warts that generally grow around the mouth and nostrils in children aged 2 years or more. In some cases, warts grow near the anus.
The skin is thick and black.
Cutis laxa or a skin condition that stretches excessively and looks saggy. This condition can occur in the neck area, fingers, palms, and soles of the feet.

When to see a doctor

Costello syndrome symptoms can be seen from birth. Babies who are born in a hospital will usually immediately get the necessary examination and care.

If your baby shows signs as mentioned above and you don't give birth in a hospital, immediately take your baby to a hospital, especially one with a NICU facility.

If you or a member of your family has Costello syndrome, genetic counseling is recommended, especially if you are pregnant or planning a pregnancy. Consulting a doctor can help you find out the risk of this condition passing on to your offspring.

Diagnosis of Costello's Syndrome

Just like in other genetic disorders, the diagnosis of Costello syndrome is quite difficult to do. During pregnancy, this condition can be suspected from the physical characteristics obtained on an ultrasound examination of pregnancy and blood tests. However, a DNA test for HRAS gene mutations must be performed to confirm the diagnosis.

While in the case of Costello syndrome after birth, the examination will begin with a question and answer regarding the patient's symptoms and medical history. The diagnosis of Costello syndrome can generally be obtained by looking at the physical signs in the patient.

To confirm the presence of HRAS gene mutations, doctors also need to do a DNA test. This is done to differentiate Costello's syndrome from other conditions with similar symptoms, such as Noonan's syndrome.

If needed, the doctor will also carry out supporting examinations, such as:

MRI, to check the condition of the brain and spinal cord
Abdominal ultrasound and pelvic ultrasound
Electrocardiogram , to detect arrhythmias
Urine test, to check for blood content in the urine
Echocardiography , to detect abnormalities in the heart or heart valves

In pediatric patients, routine checks to the doctor also need to be done to detect abnormalities in the heart muscle and rhythm, as well as cancer of the nerve cells, muscles, and bladder.

Treatment of Costello's Syndrome

Until now, there is no treatment method that can specifically treat Costello syndrome. Treatment is only limited to dealing with the symptoms experienced by patients. Here are some of the treatment methods:

Infusion of food replacement with a nasogastric tube (a tube that is inserted through the nose into the esophagus until it reaches the stomach), or with a gastronomic tube (a tube that is inserted through the stomach wall into the stomach), to provide the baby with nutrition
Medicines and surgical procedures to treat heart problems
Physiotherapy , occupational therapy, and physical therapy to treat developmental disorders
A surgical procedure to lengthen the short Achilles tendon so that your child can walk, run and play better
Treatment to a dermatologist to remove warts and improve skin thickening
Growth hormone therapy to treat growth disorders and control metabolism

Costello's Syndrome Complications

Complications to watch out for in Costello syndrome are complications from heart problems. If not treated properly, heart problems in Costello syndrome can cause heart failure or sudden cardiac arrest.

In addition, genetic disorders that are owned by sufferers of Costello syndrome make it more at risk of developing malignant cancers, such as muscle tissue cancer (such as rhabdomyosarcoma), nerve cancer (neuroblastoma), and bladder cancer.