Cri-du-chat syndrome – 5p15.2 deletion
Cri-du-chat syndrome is a genetic disorder caused by the loss of a fragment of the p arm of chromosome 5 (region 5p15.2). Nearly 10% of people with this syndrome inherit the chromosomal anomaly from an unaffected parent.
The prevalence is estimated at 1 in 15,000-50,000 births. The condition is more common in women in a proportion of 4:3. The majority of individuals have a normal life expectancy.
Most frequent clinical findings in patients with Cri-du-chat syndrome – 5p15.2 deletion:
- Sharp sounding cry similar to the mewing of a cat
- Small head with small jaw, wide-set eyes, flat and broad nasal bridge, low or abnormally shaped ears, partial tissue or webbed fingers and toes
- Low birth weight and slow growth
- Problems feeding due to difficulty swallowing and sucking
- Weak muscle tone
- Intellectual deficit and behavioral problems
- Slow or incomplete development of motor skills
- Cognitive delays and problems with language
Criduchat.org – International cry du chat