chromosome 6q24-q25 deletion syndrome

Chromosome 6q24-q25 deletion syndrome, also known as 6q25 microdeletion syndrome, is a condition that has been recently described and is characterized primarily by developmental delay, distinct facial features, and hearing loss. This condition affects multiple organ systems, including the nervous and cardiovascular systems, as evidenced by features such as hypotonia, hydrocephalus, and congenital heart anomalies. It is considered very rare, affecting fewer than 1 in 1 million people. Although the precise genetic cause remains under investigation, the reported inheritance pattern is autosomal dominant.

The clinical presentation of chromosome 6q24-q25 deletion syndrome is complex and involves multiple systems. Neurologically, affected individuals commonly exhibit hypotonia, mild intellectual disability, and a short attention span along with brain structural changes such as hydrocephalus, agenesis of the corpus callosum, and lateral ventricle dilatation. Cardiac features include patent ductus arteriosus, persistent fetal circulation, and tricuspid regurgitation. Craniofacial characteristics such as a high, narrow palate, submucous cleft hard palate, facial asymmetry, medial flaring of the eyebrows, narrow forehead, and cupped ears are consistently observed, while growth challenges such as intrauterine growth retardation, overall growth delay, and small hands are also present. In addition, feeding difficulties, respiratory distress, an anteriorly placed anus, sandal gap, and other skeletal findings like dolichocephaly further reflect the multisystem involvement. Not all individuals experience every feature and severity varies considerably.

The precise genetic basis of chromosome 6q24-q25 deletion syndrome is still under investigation, although it is linked to a deletion involving the long arm of chromosome 6. The condition is reported to follow an autosomal dominant inheritance pattern, which means that a single altered copy of the genetic material may be sufficient to cause the syndrome. This pattern has implications for family members, and individuals with the condition may pass the affected genetic material to their offspring. Given the complexities involved, genetic counseling is recommended to help families understand the risks and guide further testing or family planning.

Currently, management of chromosome 6q24-q25 deletion syndrome focuses on supportive care and symptom management, as no specific foundational or targeted therapies are available. Treatment is tailored to the individual, typically involving a multidisciplinary team to address issues such as feeding difficulties, cardiac anomalies, respiratory distress, and neurodevelopmental delays. Regular surveillance is an essential part of long-term care, helping to identify potential complications early and guide timely intervention. Patients and their families are encouraged to discuss treatment options with their healthcare team, and genetic counseling is recommended for guidance on inherited risks and management strategies.

The outlook for individuals with chromosome 6q24-q25 deletion syndrome is highly variable, with not every patient experiencing all of the potential features. The condition is characterized by a range of challenges, from developmental delays to multisystem involvement, and the severity of symptoms can differ widely between individuals. With current standards of care, many affected individuals experience periods of stabilization following initial challenges, and ongoing surveillance helps in the early detection and management of complications. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists who are familiar with this condition and to seek genetic counseling for additional guidance.