CATSPERG
Caspers Syndrome: A Journey Through a Rare Disease
Description
Cat-eye syndrome (CES), or Schmid-Fraccaro syndrome, is a rare genetic condition characterized by distinctive eye abnormalities and other physical features. The defining feature is the presence of a small vertical fold of skin above the inner corner of each eye, resembling a cat's eye.
Associated Diseases
CES is often accompanied by a constellation of associated diseases, including:
- Congenital heart defects, such as atrial septal defect and ventricular septal defect
- Renal malformations, such as polycystic kidneys and horseshoe kidney
- Skeletal abnormalities, such as scoliosis and short stature
- Gastrointestinal issues, such as imperforate anus and Hirschsprung disease
- Delayed development and intellectual disability
Did you Know ?
Cat-eye syndrome affects approximately 1 in 50,000 to 100,000 newborns worldwide. It is more common in females than males, with a ratio of about 2:1.
