Cri-du-chat syndrome

Cri-du-chat syndrome, also known as 5p deletion syndrome, is a congenital chromosomal disorder characterized by a distinctive high-pitched, cat-like cry in infancy along with multiple congenital anomalies. It results from a deletion on the short arm of chromosome 5 and occurs sporadically without a clear family history. Affected individuals typically present in early childhood with developmental delays and characteristic facial features such as microcephaly and a round face. Although precise prevalence data is not established, the condition is recognized as a rare disorder.

Individuals with Cri-du-chat syndrome commonly exhibit a high-pitched mewing cry during infancy along with notable facial dysmorphism, including epicanthus, a round face, wide nasal bridge, microretrognathia, and posteriorly rotated ears. Neurological involvement is evident with significant global developmental delay, severe intellectual disability, and hypotonia. As children grow, challenges such as speech delays and motor difficulties become apparent, while some may also experience additional features like a short neck, joint hypermobility, or inguinal hernia. Not all individuals experience all features, and severity varies considerably.

Cri-du-chat syndrome arises from a deletion on the short arm of chromosome 5. This sporadic event is not typically inherited from a parent but occurs as a new genetic change during development. The precise genetic basis is not attributed to a specific gene and is understood to result from complex chromosomal rearrangements. Families are encouraged to seek genetic counseling to better understand recurrence risks and options for family planning.

Currently, management focuses on supportive care and symptom management, as no specific treatments have been approved for Cri-du-chat syndrome. Treatment plans are individualized and typically involve a multidisciplinary team to address developmental, neurological, and physical health needs. Long-term management includes regular surveillance and monitoring to identify potential complications early, with input from specialists such as pediatric neurologists, therapists, and genetic counselors. Patients should discuss treatment options with their healthcare team to determine the most appropriate approach for their situation.

The long-term outlook for individuals with Cri-du-chat syndrome varies widely depending on symptom severity, access to early intervention, and comprehensive supportive care. With current standards of care, many individuals experience improvements in quality of life as they benefit from early therapeutic and educational interventions. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition, and genetic counseling is recommended for further guidance.

Several clinical trials are underway exploring new treatment approaches for Cri-du-chat syndrome. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility and research opportunities.