PHAVER syndrome

PHAVER syndrome is a very rare condition that affects several parts of the body. It is known by several names including PHAVER syndrome, Powell-Chandra-Saal syndrome, and a longer descriptive term that mentions pterygia, heart defects, vertebral and ear anomalies, and radial defects. The syndrome is characterized by limb pterygia (webbing), heart anomalies, vertebral defects, ear anomalies, and abnormalities in the radial bones of the arms. The syndrome follows an autosomal recessive inheritance pattern, meaning that the condition is passed down when both parents carry a copy of the gene change. Although few cases have been reported, awareness of the symptoms helps in understanding the challenges that people with PHAVER syndrome may face.

The symptoms of PHAVER syndrome include limb pterygia (skin webbing or folds), heart anomalies, vertebral defects (affecting the spine), ear anomalies, and defects in the radial bones of the arms. These physical findings are part of the characteristic presentation noted by clinicians. Some features may be more noticeable than others depending on the individual case.

PHAVER syndrome is inherited in an autosomal recessive manner. This means that a person needs to inherit two copies of the abnormal gene, one from each parent, to develop the condition. There is currently no information about a specific gene or mutation that causes PHAVER syndrome.

Information about treatment is currently limited for this condition. Treatments generally focus on managing individual symptoms and addressing any complications that arise in different body systems.

Information about prognosis is currently limited for this condition. As with many rare syndromes, the outlook can vary depending on the severity of the symptoms and the specific challenges that occur in each case.

Information about current research is currently limited for this condition. Efforts in medical research continue to explore better ways to understand and manage rare disorders like PHAVER syndrome.