Lowry-Wood syndrome

A rare genetic disorder characterized by specific physical and developmental features

Lowry-Wood syndrome is a rare genetic disorder that is inherited in an autosomal recessive manner. It is characterized by a combination of skeletal abnormalities, developmental delay, and distinctive facial features.

Genetics

Lowry-Wood syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The disorder follows an autosomal recessive pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Diagram of autosomal recessive inheritance

Clinical Features

Individuals with Lowry-Wood syndrome typically present with a range of clinical features, which may include:

• Skeletal abnormalities: These can include short stature, scoliosis, and other bone deformities.
• Developmental delay: Affected individuals often experience delays in reaching developmental milestones, such as walking and talking.
• Facial dysmorphism: Distinctive facial features may include a broad forehead, wide-set eyes, and a flat nasal bridge.
• Hearing loss: Some individuals may have sensorineural hearing loss.

Diagnosis

The diagnosis of Lowry-Wood syndrome is primarily clinical, based on the characteristic features observed in the patient. Genetic testing may be used to confirm the diagnosis by identifying mutations in the suspected gene.

Management

There is no cure for Lowry-Wood syndrome, and treatment is supportive and symptomatic. Management may involve:

• Physical therapy to improve mobility and strength
• Speech therapy to address communication difficulties
• Hearing aids or other interventions for hearing loss
• Regular monitoring and management of skeletal issues

Prognosis

The prognosis for individuals with Lowry-Wood syndrome varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate support and interventions, many individuals can lead fulfilling lives.

Related pages

• Genetic disorder
• Autosomal recessive inheritance
• Developmental delay
• Skeletal dysplasia