Makindo Medical Notes

Related Subjects: | Osteoporosis | Autosomal Dominant | Autosomal Recessive | X Linked Recessive |Dementias |Chromosomal Defects |Turner's syndrome (Children) |Down's syndrome (Children) |Cri du Chat Syndrome

Cri du Chat syndrome (CdCS) is a rare genetic disorder caused by the deletion of the short arm of chromosome 5. It is characterized by a distinctive high-pitched cry, intellectual disability, and developmental delays.

Causes

• Deletion of the short arm of chromosome 5 (5p-).
• Mostly occurs sporadically but can be inherited.
• Deletions vary in size, affecting severity.

Clinical Features

• High-pitched, cat-like cry in infancy.
• Microcephaly and low birth weight.
• Facial dysmorphism: round face, hypertelorism, epicanthal folds.
• Severe intellectual disability and speech delay.
• Motor and growth retardation.
• Cardiac defects in some cases.

Diagnosis

• Clinical evaluation based on characteristic features.
• Chromosomal analysis (karyotyping or FISH test).
• Array CGH (Comparative Genomic Hybridization) for precise deletion mapping.

Management

• Supportive care with a multidisciplinary approach.
• Speech, occupational, and physical therapy.
• Educational support tailored to cognitive abilities.
• Management of associated cardiac or orthopedic issues.
• Genetic counseling for affected families.

Prognosis

• Varies based on deletion size and severity of symptoms.
• Most individuals have lifelong developmental disabilities.
• Early intervention improves functional outcomes.

Prevention

• Genetic counseling for families with a history of CdCS.
• Prenatal testing available in high-risk pregnancies.

References

• Genetics Home Reference
• NCBI Bookshelf