General Information About Cri Du Chat Syndrome
Disease Details and Frequently Asked Questions
It is a physical and intellectual developmental disorder caused by a deletion on the p arm of chromosome 5, which carries genetic material.
The chromosomal deletion leads to abnormal development of the larynx (voice box). Therefore, when these babies cry, they emit a high-pitched, shrill sound that closely resembles the meow of a cat.
An unusually small head structure (microcephaly), widely set and downward-slanting eyes, a round face, a small jaw, and low birth weight.
Patients experience delays in motor skills (walking, sitting), severe speech difficulties, and moderate to severe intellectual disability.
The characteristic crying sound provides a clue to the physician at an early stage. For a definitive diagnosis, Chromosome Analysis (Karyotyping or microarray) is performed on the baby's blood sample to identify the missing gene fragment.
There is no genetic cure for the syndrome. Intensive physical therapy, speech therapy, special education programs initiated early, and the management of associated heart/kidney problems significantly improve the quality of life.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
