Costello syndrome (patient information)

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What is Costello syndrome?

Costello syndrome is a genetic disorder that affects many parts of the body. This condition is characterized by delayed development and mental retardation, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but have difficulty feeding and grow more slowly than other children. Later in life, people with this condition have relatively short stature and many lack growth hormone.

Beginning in early childhood, people with Costello syndrome have an increased risk of developing certain cancerous and noncancerous tumors. Small growths called papillomas are the most common noncancerous tumors seen with this condition. They usually develop around the nose and mouth or near the anus. The most frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma. Other cancers also have been reported in children and adolescents with this disorder, including a tumor that arises in developing nerve cells (neuroblastoma) and a form of bladder cancer (transitional cell carcinoma).

What are the symptoms of Costello syndrome?

At Birth

• An excess of amniotic fluid
• Increased birth weight
• Subsequent weight loss and a failure to thrive
• Difficulty feeding
• Short stature

Physical Appearance

• Oversized features, particularly the head and mouth
• Curly, thin hair
• Wide, short nose
• Deep, hoarse voice
• Loose, soft skin
• Increased pigmentation
• A large amount of warts on the face, may be absent during infancy and appear during early childhood
• Hair loss
• Splayed fingers
• Abnormal fingernails
• Abnormal feet positioning

Developmental

• Developmental delay, mental retardation
• Sociable personality

Musculoskeletal

• Tight Achilles tendons
• Abnormal curvature of the spine
• Assymetric rib cage

Cardiovascular

• Increased heart tissue
• Heart defects present since birth
• Abnormal electrical activity of the heart, causing irregular heart beats, faster or slower than normal

Neurologic

• Hydrocephalus, an abnormal accumulation of cerebrospinal fluid in the brain
• Seizures

In addition, there is a 15% chance that children and young adults with Costello syndrome suffer from malignant, solid tumors most commonly found in connective tissue, developing nerve cells, and the bladder.

Where to find medical care for Costello syndrome

Directions to Hospitals Treating Costello syndrome