autosomal dominant Kenny-Caffey syndrome

Autosomal dominant Kenny-Caffey syndrome is a skeletal condition marked by distinctive bone changes and transient imbalances in calcium levels. It is caused by mutations in the FAM111A gene and typically presents with characteristic features from early life. Affected individuals often exhibit proportionate short stature, eye anomalies such as microphthalmia, and specific bone findings including cortical thickening and medullary stenosis. Although precise prevalence data is not available, the condition is recognized based on its consistent clinical features.

The clinical presentation of autosomal dominant Kenny-Caffey syndrome is defined by several hallmark features. All affected individuals have severe short stature, microphthalmia, hypocalcemia, and a prominent forehead. In addition, a number of individuals may experience hypermetropia, an abnormally high-pitched voice, and delayed closure of the anterior fontanelle. Not all individuals experience all features, and severity varies considerably between cases.

This condition is due to mutations in the FAM111A gene, which encodes a protein believed to play a role in bone development and calcium regulation. It is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene can result in the syndrome. As a result, an affected individual has the potential to pass the mutation on to approximately half of their children. That even within families, the severity and specific presentation of symptoms can be variable.

Currently, management focuses on supportive care and symptom management tailored to the individual’s needs. Although no specific treatments have been approved for autosomal dominant Kenny-Caffey syndrome, a multidisciplinary team approach is often used to address growth, calcium balance, and vision-related issues. Patients and families are encouraged to work with healthcare providers and consider genetic counseling to better understand the condition and explore available supportive therapies.

The long-term outlook for individuals with autosomal dominant Kenny-Caffey syndrome varies depending on the severity of symptoms and the effectiveness of supportive care. While the condition is lifelong, many individuals benefit from modern standards of care that help manage symptoms and support quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to connect with genetic counselors, support groups, and specialist centers for ongoing guidance.

Clinical trials are underway exploring new treatment approaches for autosomal dominant Kenny-Caffey syndrome. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility and emerging therapies.