Costello syndrome is a rare condition that affects a child’s development. It’s caused by a change in their genes before birth, impacting their heart, muscles, bones, skin, and brain. Kids with Costello syndrome may have loose skin, flexible joints, heart issues, and distinct facial features.
How is Costello syndrome diagnosed?
Diagnosis is typically made based on clinical features, genetic testing to identify HRAS gene mutations, and consultation with specialists familiar with the condition.
Can children with Costello syndrome attend regular schools?
With proper support and accommodations, many children with Costello syndrome can attend regular schools and benefit from inclusive education.
What is the life expectancy of someone with Costello syndrome?
The life expectancy of individuals with Costello syndrome varies, but with proper medical care and support, many can live fulfilling lives into adulthood and beyond.
Can Costello syndrome be detected before birth?
Prenatal testing, such as genetic testing through chorionic villus sampling (CVS) or amniocentesis, can detect HRAS gene mutations in some cases, allowing for early preparation and support.
Costello syndrome (CS) is a rare genetic disorder caused by a mutation in the HRAS gene, which occurs during fetal development. This mutation leads to a wide range of physical and developmental abnormalities, affecting various organ systems such as the cardiovascular, musculoskeletal, dermatological, and neurological systems. CS is estimated to occur in approximately 1 in every 300,000 to 1,250,000 live births worldwide.
Costello syndrome presents a unique set of symptoms that parents of children with this condition should be aware of. Here are some of the most common symptoms:
| Category | Description |
|---|---|
| Distinctive Facial Features | Look for a larger head, low-set ears, and full cheeks. |
| Delayed Development | Motor, speech, and cognitive delays are common but can improve with early interventions. |
| Heart Issues | Watch out for structural heart problems or arrhythmias, which need specialized medical care. |
| Hair Characteristics | Expect unusual curly or sparse hair texture. |
| Feeding Difficulties | Some may need feeding support. |
| Increased Cancer Risk | Keep an eye out for a higher risk of certain cancers, like rhabdomyosarcoma. |
Knowing the symptoms of Costello syndrome empowers parents to recognize early signs and seek timely medical care and support.
This post was originally published on Aug. 5, 2023. It was updated on May 9, 2024.
