Snyder-Robinson Syndrome synonyms

Snyder-Robinson Syndrome synonyms:

Snyder-Robinson Syndrome (SRS) is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, muscle and bone abnormalities, and distinctive facial features. While there are no specific synonyms for SRS, it is sometimes referred to as Snyder-Robinson Syndrome X-linked intellectual disability or SRS X-linked intellectual disability.

Intellectual disability:

One of the key features of Snyder-Robinson Syndrome is intellectual disability. Individuals with SRS typically have below-average intellectual functioning and may experience difficulties with learning, problem-solving, and adaptive skills.

Muscle and bone abnormalities:

SRS is also associated with various muscle and bone abnormalities. These can include muscle weakness, low muscle tone (hypotonia), joint laxity, and skeletal abnormalities such as scoliosis or kyphosis.

Distinctive facial features:

Individuals with Snyder-Robinson Syndrome may have distinct facial features that can include a prominent forehead, a broad nasal bridge, a wide mouth, and a pointed chin.

X-linked inheritance:

Snyder-Robinson Syndrome is inherited in an X-linked recessive manner. This means that the gene mutation responsible for the disorder is located on the X chromosome. As a result, SRS primarily affects males, while females are typically carriers of the gene mutation.

Genetic cause:

SRS is caused by mutations in the Spermine Synthase (SMS) gene. This gene is responsible for producing an enzyme called spermine synthase, which plays a role in the metabolism of polyamines. Mutations in the SMS gene lead to a deficiency of spermine synthase, resulting in the characteristic features of Snyder-Robinson Syndrome.