Cat Eye Syndrome synonyms

Cat Eye Syndrome, also known as Schmid-Fraccaro Syndrome or Partial Trisomy 22, is a rare genetic disorder characterized by a distinct set of physical and developmental abnormalities. It is named after the cat-like appearance of the affected individuals' eyes, which exhibit a vertical elongation of the iris.

Individuals with Cat Eye Syndrome may experience a range of symptoms and health issues. Some of the most common features include coloboma (a gap or hole in the structures of the eye), heart defects, kidney abnormalities, hearing loss, intellectual disability, and delayed growth. Additionally, affected individuals may exhibit facial abnormalities such as a small jaw, low-set ears, and a flattened nasal bridge.

The underlying cause of Cat Eye Syndrome is a genetic abnormality known as partial trisomy, where there is an extra copy of a portion of chromosome 22. This extra genetic material can disrupt the normal development and functioning of various body systems, leading to the observed symptoms.

Diagnosis of Cat Eye Syndrome is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. Treatment for this syndrome focuses on managing the specific symptoms and health issues that arise in each individual case. This may involve surgical interventions for heart defects or coloboma, early intervention programs for developmental delays, and regular monitoring of kidney function.

While Cat Eye Syndrome is a rare condition, it is important for affected individuals and their families to seek appropriate medical care and support. Genetic counseling can be beneficial in understanding the inheritance pattern and recurrence risks associated with this syndrome.