The most common heart defect seen in those with Costello syndrome is hypertrophic cardiomyopathy. This is a thickening of the heart which causes the heart muscle to not work as well. Other types of heart defects include:
Muscle and Skeletal Abnormalities
Many with Costello syndrome have:
- Decreased muscle tone (hypotonia)
- Loose / flexible joints
- Abnormal curvature of the spine (kyphoscoliosis)
- Short stature
They also have:
- An abnormality in their wrists and fingers (ulnar deviation)
- Differences in the shape of their chest (pectus carinatum/excavatum)
People with Costello syndrome have distinct facial features such as a long face, full lips, and low-set ears, which can change over time. Though those with Costello syndrome share many facial features, they also look like their own family members.
They also often have fine, curly hair and a deep, hoarse or whispery voice.
Learning and Development
Delay in reaching early developmental milestones is common for those with Costello syndrome. Infants often have trouble feeding due to low muscle tone (hypotonia). All people with Costello syndrome will have some intellectual disabilities, ranging from mild to moderate.
People with Costello syndrome can also have: