What is Costello Syndrome?

Quick Facts about Costello syndrome:

  • Costello syndrome (CS) is a rare, genetic disorder that affects many parts of the body.  There is no cure.
  • Costello syndrome causes neurocognitive delays and impaired learning.
  • Many children struggle to walk, talk, and feed themselves.
  • Although infants with Costello syndrome may be large at birth, they have difficulty feeding and grow more slowly than other infants.  They often require a feeding tube as an infant but are often able to have it removed later on.
  • Many people with Costello syndrome have Gastroesophageal Reflux Disease (GERD).
  • Problems with the heart are common.
  • Beginning in early childhood, people with Costello syndrome have a greater risk of developing cancerous (malignant) and noncancerous (benign) tumors.  Individuals with CS have a 15% lifetime risk of developing malignant tumors, with the highest risk occurring during childhood.  Noncancerous (benign) papillomas and cancerous (malignant) tumors may occur in a muscle, nerve cells, or bladder.
  • Most people with CS will have skeletal and orthopedic problems.

Other characteristics of Costello syndrome include:

  • Broad mouth with thick lips
  • Loose folds of extra skin (especially on the hands and feet) and unusually flexible joints
  • Short stature
  • Distinctive facial features
  • Remarkably pleasant, social, and easy-going personality

A few more facts:

  • In 2005 a group of Japanese researchers discovered that mutations in a gene called HRAS causes Costello syndrome. HRAS is a gene that has been known for a long time, because mutations in it are common in cancers in the general population. It was a surprise that a cancer associated gene like HRAS could cause a developmental syndrome.
  • Costello syndrome has a prevalence of approximately 1 in 381,000 so it is an ultra rare disorder. Since 2005, when a diagnostic test was created, around 200 people have been reported in world literature.

Click here for a more detailed review on the management of Costello syndrome.
Click here for a deeper explanation of the genetics in lay terms.
Click here for a copy of the parent booklet.

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