Lowry-Wood syndrome

Lowry-Wood syndrome is a very rare condition, with fewer than 10 cases reported in the medical literature. It is a genetic disorder that affects bone development and brain growth. People with this condition may experience short stature, a small head (microcephaly), and issues with the bones at the ends of long bones (epiphyseal dysplasia). In early cases, a type of involuntary eye movement (congenital nystagmus) was also noted. Some individuals may also have additional symptoms such as variable levels of intellectual challenges, retinitis pigmentosa (a condition affecting vision), and coxa vara (a hip abnormality). Because of its rarity, understanding of the full scope of this syndrome is limited, and the symptoms can vary from one person to another.

Common symptoms of Lowry-Wood syndrome include short stature, a smaller head size (microcephaly), and abnormal development of the ends of the bones (epiphyseal dysplasia). Some reported cases have shown congenital nystagmus (involuntary eye movements), and there may also be vision problems due to retinitis pigmentosa. In a few individuals, varying degrees of intellectual difficulties have been described, and hip abnormalities such as coxa vara can occur.

Lowry-Wood syndrome appears to be caused by genetic changes and is inherited in an autosomal recessive manner. This means that a child must inherit two copies of the mutated gene, one from each parent, to develop the condition. The gene that has been linked to this syndrome is RNU4ATAC.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.