Weaver–Johnson syndrome

Weaver–Johnson syndrome is a rare genetic disorder characterized by rapid growth beginning in the prenatal period and continuing through the early years of life, distinctive facial features, and various skeletal anomalies. The syndrome was first described by David Weaver and colleagues in the 1970s. It is sometimes referred to as Weaver syndrome or WVS. The condition is part of a group of overgrowth syndromes, which also includes Sotos syndrome and Beckwith-Wiedemann syndrome.

Symptoms and Characteristics

Weaver–Johnson syndrome is marked by a distinctive set of clinical features. Key symptoms and characteristics include:

• Rapid growth: Individuals with Weaver–Johnson syndrome typically exhibit accelerated growth from before birth. This rapid growth often continues into early childhood.
• Facial features: Distinctive facial features may include a broad forehead, large ears, a long philtrum, and a small chin.
• Skeletal anomalies: Skeletal issues can include camptodactyly (permanently bent fingers or toes), broad thumbs and toes, and reduced joint mobility.
• Intellectual development: While intellectual development can vary widely among individuals with Weaver–Johnson syndrome, some may experience developmental delays or learning difficulties.
• Other features: Additional symptoms can include muscle hypotonia (reduced muscle tone), hoarse voice, and, in some cases, cardiovascular anomalies.

Causes

Weaver–Johnson syndrome is caused by mutations in the EZH2 gene, which plays a crucial role in the regulation of gene expression through chromatin remodeling. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. However, many cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis

Diagnosis of Weaver–Johnson syndrome is based on clinical evaluation and the presence of characteristic features. Genetic testing can confirm a diagnosis by identifying a mutation in the EZH2 gene. Prenatal growth patterns observed through ultrasound may also suggest the presence of the syndrome.

Treatment

There is no cure for Weaver–Johnson syndrome, and treatment is symptomatic and supportive. Management may include:

• Growth monitoring: Regular monitoring of growth and development is important to address any complications arising from the syndrome's characteristic rapid growth.
• Therapeutic interventions: Physical therapy, occupational therapy, and speech therapy can help address developmental delays, learning difficulties, and skeletal anomalies.
• Medical management: In some cases, surgery may be required to correct skeletal anomalies. Additionally, any cardiovascular anomalies present will require appropriate medical management.

Prognosis

The prognosis for individuals with Weaver–Johnson syndrome varies depending on the severity of symptoms and the presence of complications. With appropriate management, many individuals with the syndrome can lead healthy, productive lives.

   This article is a  stub. You can help WikiMD by expanding it!