autosomal recessive Kenny-Caffey syndrome

Autosomal recessive Kenny-Caffey syndrome is a genetic condition primarily affecting skeletal development and parathyroid function. It is caused by mutations in the TBCE gene, which encodes the tubulin-specific chaperone E, leading to abnormal bone formation and impaired calcium regulation. Affected individuals typically present in early childhood with hypoparathyroidism resulting in low calcium levels, notable growth retardation, and distinct craniofacial anomalies. Although precise prevalence data are not available, the condition is considered uncommon and continues to be an area of active research.

Individuals with autosomal recessive Kenny-Caffey syndrome often present with hypoparathyroidism, which may lead to symptoms related to low calcium levels such as muscle cramps or, in some cases, seizures. Marked growth retardation is common, and affected children may exhibit characteristic craniofacial anomalies along with a notable absence of the diploic space in the skull. Additional skeletal findings include cortical thickening of long bones with medullary stenosis and small hands and feet. Not all individuals experience all of these features, and there is significant variability in severity.

Autosomal recessive Kenny-Caffey syndrome is caused by pathogenic variants in the TBCE gene, which plays a critical role in the proper folding and function of tubulin proteins. The disorder follows an autosomal recessive pattern, meaning that an affected individual inherits two mutated copies of the gene, one from each parent. As a result, each child born to carrier parents has a 25% chance of being affected. Genetic counseling is recommended to help families understand the implications for future pregnancies and overall recurrence risk.

Currently, management of autosomal recessive Kenny-Caffey syndrome focuses on supportive care and symptom management. Treatment is individualized and may include measures to correct low calcium levels as well as interventions to address growth and skeletal abnormalities. A multidisciplinary team of specialists, including endocrinologists, pediatricians, and orthopedic experts, is typically involved in ongoing care. Patients should discuss treatment options with their healthcare team to determine the most appropriate approach for their specific situation; genetic counseling can also provide valuable guidance for families.

The long-term outlook for individuals with autosomal recessive Kenny-Caffey syndrome varies based on the severity of skeletal and endocrine manifestations. With current standards of care, many individuals experience improved quality of life as supportive treatments are optimized, although challenges related to growth and calcium balance may persist. Outcomes described in medical literature continue to evolve as standards of care improve, and clinical experiences differ widely between affected individuals. Families often find it helpful to connect with genetic counselors and specialists familiar with the condition to explore management strategies and supportive resources.

Clinical trials are underway exploring new treatment approaches for autosomal recessive Kenny-Caffey syndrome. Although research in this area is still emerging, these studies may offer insights into more effective management strategies in the future. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.