SOX11-related complex neurodevelopmental disorder with or without congenital anomalies

SOX11-related complex neurodevelopmental disorder with or without congenital anomalies is an autosomal dominant condition that affects brain development and growth. It is caused by changes in the SOX11 gene and is often seen in people with developmental delays and intellectual challenges. In addition to delayed development, individuals may have a small head size (microcephaly) and differences in eye structure, such as oculomotor apraxia, coloboma, lens abnormalities, and microphthalmia. Some may also exhibit physical differences in the fingers, including clinodactyly (curved finger), and changes in the nails and bones of the fingers.

Common signs of this condition include developmental delay, impaired intellectual development, and microcephaly. People may also experience oculomotor apraxia, various eye malformations (such as coloboma, lens abnormalities, and microphthalmia), and hypogonadotropic hypogonadism. Some individuals might show finger clinodactyly and underdeveloped distal phalanges with nail hypoplasia, especially on the fifth digits.

This disorder is caused by a change in the SOX11 gene and follows an autosomal dominant pattern, meaning that a single copy of the altered gene can cause the condition. The specific genetic variation affects how the body develops and may lead to several of the features seen in this disorder.

Information about treatment is currently limited for this condition.

Information about the outlook and quality of life for individuals with this condition is currently limited.

Research is ongoing to better understand the genetic causes and the unique diagnostic biomarkers, such as the peripheral blood DNA methylation signature, in SOX11-related complex neurodevelopmental disorder. Further studies are needed to improve diagnosis and explore future treatment options.