FAQ Category: General Aspects

What is Costello syndrome?

Costello syndrome is a genetic disorder that affects many parts of the body. It includes developmental (neurocognitive) delays and impaired learning, unique facial features that make people with the condition look like they're related to…

How common is Costello syndrome?

This condition is very rare. Based on the numbers in the UK, the risk of having a child with Costello syndrome is 1:500,000.

When was Costello syndrome first described?

First description: In 1975 and 1977, Dr. Jack Costello, a New Zealand pediatrician, published the descriptionof two children with similar physical characteristics and mild intellectual handicap. First molecular gene finding: in 2005, Aoki et al…

What is the history of its description over the years?

First description: In 1975 and1977, Dr. Jack Costello, a New Zealand pediatrician, published the descriptionof two children with similar physical characteristics and mild intellectualhandicap. Early Reports: In 1991, Dr. Vazken Der Kaloustian from Montreal reported…

How does CS affect the skin?

Costello syndrome has many features that involve the skin. Some of the most notable are thickening of the palms of thehands and bottoms of the feet and areas of pressure. Another skin issue that can…