Snyder–Robinson syndrome
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Snyder–Robinson syndrome (SRS) is an extremely rare inherited genetic disorder[1] characterized by muscular and skeletal abnormalities, varying degrees of intellectual disability, seizures,[2] and slow development.[3]
Snyder–Robinson syndrome | |
---|---|
Other names | Spermine synthase deficiency |
Specialty | Medical genetics |
Symptoms | Intellectual disability, facial asymmetry, kyphoscoliosis, osteoporosis, hypotonia, asthenic build, seizures |
Usual onset | Adolescence, childhood, infancy |
Causes | Genetic[1] |
Differential diagnosis | Glycerol kinase deficiency, Urban syndrome, Rett syndrome, cerebral palsy, Prader–Willi syndrome |
Frequency | <1 per 1,000,000 |
SRS is caused by a mutated SMS gene at chromosome Xp21.3-p22.12, which carries instructions for producing the enzyme spermine synthase.[4] Spermine synthase in turn helps the body produce spermine, a polyamine critical to cell processes such as cell division, tissue repair, and apoptosis.[5] The resulting shortage of spermine in cells causes problems with development and brain function, though the exact mechanism is not understood.
The syndrome has also been referred to as Snyder–Robinson X-linked mental retardation syndrome (MRXSSR) and spermine synthase deficiency. SRS exclusively affects males.[1] Only about ten families currently have a child with SRS, and 50 people have been diagnosed worldwide since 1969.[6]