Cri-du-chat syndrome, also known as 5p- syndrome or cat cry syndrome, is a rare genetic disorder caused by a deletion of genetic material on part of chromosome 5. The name of the syndrome comes from the high-pitched cry that affected infants produce, which sounds like a cats cry. The symptoms of cri-du-chat syndrome can vary in severity, but they often include:

• Intellectual disability and delayed development
• Small head size (microcephaly)
• Low birth weight
• Weak muscle tone (hypotonia) in infancy
• Distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face
• A high-pitched, cat-like cry or weak cry
• A broad, flattened bridge of the nose
• Eyes spaced wide apart
• Folds of skin over the eyelids
• Hearing loss
• Deformities of the skeleton, such as curvature of the spine (scoliosis)
• Hernias
• Heart and kidney problems

Cri-du-chat syndrome is caused by a missing section on chromosome 5, which can occur randomly during the formation of reproductive cells (eggs or sperm) in early fetal development. Most cases of cri-du-chat syndrome are not inherited, and parents of a child with a random deletion usually have normal chromosomes. There is no cure for cri-du-chat syndrome, but treatments such as speech therapy, physiotherapy, and occupational therapy can help the child reach their full potential. If you plan on becoming pregnant, it is recommended to talk to your healthcare provider about genetic counseling to understand your risk of having a child with a genetic condition.