Snyder–Robinson syndrome
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]
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]
Presentation[edit | edit source]
Snyder–Robinson usually is noticeable in infants, causing hypotonia and declining muscle tone with age. Seizures can occur in childhood, and children are especially susceptible to broken bones.[3]
During early childhood, SRS causes mild to profound intellectual disability; speech difficulties; problems with walking; osteoporosis; marfanoid habitus; and scoliosis, kyphosis, or both (kyphoscoliosis).Distinctive facial features include a cleft palate, facial asymmetry, and a prominent lower lip.Kidney problems may also occur, such as nephrocalcinosis and renal cysts.[citation needed]
Cause[edit | edit source]
SRS is a recessive X-linked condition.[7] There are no known female cases, as both copies of the X chromosome would need to be mutated.[citation needed]
Diagnosis[edit | edit source]
When SRS is suspected, doctors will order a molecular genetic test to confirm a mutation in the SMS gene—specifically a "hemizygous loss-of-function... pathogenic variant". However, there are currently no formal criteria for a diagnosis.[3]
Management[edit | edit source]
Individuals with Snyder–Robinson may be assisted by occupational therapy, physical or speech therapy. Anti-seizure medications such as carbamazepine, phenobarbital, and clobazam can be used to manage seizures[2]—the medication used often is influenced by the type of seizure. Bone density can be determined via a DXA scan and may be improved with calcium supplements.[3]
In 2014, several parents of individuals with SRS founded the Snyder–Robinson Foundation, a 501(c)(3) non-profit based in the US.[8][6] It is a member of the National Organization for Rare Disorders.[9]
History[edit | edit source]
SRS was first reported in a 1969 paper published in Clinical Pediatrics by Russell D. Snyder[10] and Arthur Robinson, who described the syndrome as "recessive sex-linked mental retardation in the absence of other recognizable abnormalities".[11]
References[edit | edit source]
- ↑ 1.0 1.1 "Snyder-Robinson syndrome". Genetics Home Reference. NIH. Retrieved 1 July 2019.
- ↑ 2.0 2.1 Rosato, Donna (June 21, 2017). "Who's on Medicaid Might Surprise You". Consumer Reports. Retrieved 1 July 2019.
- ↑ 3.0 3.1 3.2 3.3
- ↑
- ↑
- ↑ 6.0 6.1 Gilreath, Ariel (March 10, 2018). "GGC hopes to create model for researching rare diseases". The Index-Journal. Retrieved 1 July 2019.
- ↑ "X-linked intellectual disability, Snyder type". Orphanet. Retrieved 1 July 2019.
- ↑ Miranda, Coty Dolores (January 13, 2019). "Dr. Mary Jo Kutler closes out cherished practice". Ahwatukee Foothills News. Retrieved 1 July 2019.
- ↑ "About Us". The Snyder-Robinson Foundation. 2019-06-15. Retrieved 1 July 2019.
- ↑
- ↑
External links[edit | edit source]
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