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.