Cri Du Chat Syndrome: Causes, Symptoms, Diagnosis, Treatment

Cri Du Chat Syndrome which is also known by the name of Chromosome 5p Deletion Syndrome is a rare inherited disorder, which is caused due to missing chromosome 5 from the body resulting in various complications and symptoms.

Cri Du Chat Syndrome is extremely rare and as stated is caused by a missing chromosome 5 from the body. Majority of cases of Cri Du Chat Syndrome are believed to begin at the time of development of the egg or sperm. Some cases of this disease also occur when the parent passes a different form of the chromosome to the child.

• A high pitched cry resembling that of a cat
• Downward slanting eyes
• Extremely low birth weight
• Delayed growth of the child
• Abnormally shaped ears
• Intellectual impairment
• Webbing or fusing of fingers
• Skin tags in front of ear
• Delayed motor development
• Microcephaly
• Small jaw
• Wide-set eyes.

To diagnose Cri Du Chat Syndrome, the treating physician will perform a physical examination which will reveal the following:

• Presence of palpable inguinal hernia
• Decreased muscle tone
• Epicanthal folds
• Problems folding of the outer part of the ears.

Apart from this, genetic tests will reveal the missing chromosome 5 thus confirming the diagnosis.

There is no definitive treatment for Cri Du Chat Syndrome but treatments are aimed at controlling the symptoms. Parents of the affected child need genetic counseling and testing in order to determine changes in chromosome 5. The most significant disability due to Cri Du Chat Syndrome is intellectual impairment but more than half of children affected with this disease learn enough verbal skills to communicate effectively over time. The cry resembling that of a cat also clears up with time. The complications of Cri Du Chat Syndrome is dependent on the extent of impairment and physical disabilities and may affect a person’s ability to care for self.