Lowry-Wood syndrome

Lowry-Wood syndrome is a rare genetic disorder characterized by a range of skeletal abnormalities, including short stature, hypoplastic (underdeveloped) vertebrae, and microcephaly (a condition where the head and brain are significantly smaller than expected for an individual's age and sex). Patients with Lowry-Wood syndrome may also exhibit intellectual disability and eye abnormalities. The syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms and Characteristics

The primary features of Lowry-Wood syndrome include:

• Skeletal Abnormalities: Patients often present with skeletal dysplasia, which can include short stature, hypoplastic vertebrae, and sometimes scoliosis (a sideways curvature of the spine).
• Microcephaly: This is a significant and characteristic feature, where the patient's head circumference is markedly below the norm for their age and sex.
• Intellectual Disability: Varying degrees of intellectual disability or developmental delays are common in individuals with Lowry-Wood syndrome.
• Eye Abnormalities: These can range from minor anomalies to more severe conditions that may affect vision.

Genetics

Lowry-Wood syndrome is caused by mutations in a gene that has not been definitively identified. The condition follows an autosomal recessive pattern of inheritance. This means that for a child to be affected, they must inherit one mutated gene from each parent. Parents of an affected child are typically unaffected carriers of one copy of the mutated gene.

Diagnosis

Diagnosis of Lowry-Wood syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may help in confirming the diagnosis, although the specific gene associated with the syndrome has not been clearly identified. Prenatal diagnosis may be possible for families with a known history of the condition, through the use of genetic counseling and testing.

Management and Treatment

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

• Orthopedic Care: For skeletal abnormalities and scoliosis.
• Educational Support: For intellectual disability and developmental delays.
• Ophthalmologic Care: Regular eye examinations and treatment as necessary for eye abnormalities.

Prognosis

The prognosis for individuals with Lowry-Wood syndrome varies depending on the severity of symptoms. With appropriate management and supportive care, individuals can lead a relatively normal life. However, the presence of severe intellectual disability or significant physical health issues may impact the overall quality of life and lifespan.

See Also

• Genetic disorder
• Skeletal dysplasia
• Autosomal recessive inheritance