Costello syndrome: Causes, symptoms, and treatment

Costello syndrome is a rare, genetic disorder that involves delayed physical and mental development.

It affects various parts of the body and is characterized by loose folds of skin, poor muscle tone and other problems.

Further complications include the development of malignant and nonmalignant tumors, heart defects, and abnormal heart muscle growth.

Common heart problems include hypertrophic cardiomyopathy, which is an enlargement of the heart that weakens the heart muscle, abnormal heart beats, or arrhythmia, and other structural defects.

Costello syndrome, also known as faciocutaneoskeletal (FCS) syndrome is thought to affect 200 to 300 people worldwide, but more cases may remain undiagnosed.

Fast facts about Costello syndrome

Costello syndrome is extremely rare, affecting between 200 and 300 people worldwide.

It can lead to delayed development, intellectual impairment, a large head and mouth with low ears, and loose skin.

Costello syndrome also causes problems with the heart. It is a genetic condition that affects a range of bodily systems.

There is no current cure and no specific treatments for the condition. Treatment aims to relieve different aspects of the syndrome, such as hypertrophic cardiomyopathy and special education to support learning difficulties.


Costello syndrome DNA
Costello syndrome is a genetic disease that affects a range of systems.

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


heart problems, including abnormal heart rhythm

dental problems

tight Achilles tendon

thick calluses and toenails

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