Snyder–Robinson syndrome

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Snyder–Robinson syndrome
Other names: Spermine synthase deficiency
PMC4428506 13023 2015 235 Fig1 HTML.png
Snyder–Robinson syndrome-a,b) Face c) hand d) hands e) left humerus f) left forearm g) left hand h) pelvis i)left femur j)left lower leg
SymptomsIntellectual disability, facial asymmetry, kyphoscoliosis, osteoporosis, hypotonia, asthenic build, seizures
Usual onsetAdolescence, childhood, infancy
CausesGenetic[1]
Differential diagnosisGlycerol kinase deficiency, Urban syndrome, Rett syndrome, cerebral palsy, Prader–Willi syndrome
Frequency<1 per 1,000,000

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]

Signs and symptoms

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

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

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

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

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

  1. 1.0 1.1 1.2 "Snyder-Robinson syndrome". Genetics Home Reference. NIH. Archived from the original on 28 July 2018. Retrieved 1 July 2019.
  2. 2.0 2.1 Rosato, Donna (June 21, 2017). "Who's on Medicaid Might Surprise You". Consumer Reports. Archived from the original on 3 May 2019. Retrieved 1 July 2019.
  3. 3.0 3.1 3.2 3.3 Albert, Jessica; Schwartz, Charles E.; Boerkoel, Cornelius F.; Stevenson, Roger E. (June 27, 2013). "Snyder-Robinson Syndrome". GeneReviews. Seattle: University of Washington, Seattle. PMID 23805436. Archived from the original on 27 January 2016. Retrieved 1 July 2019.
  4. Cason, A. Lauren; Ikeguchi, Yoshihiko; Skinner, Cindy; Wood, Tim C.; Holden, Kenton R.; Lubs, Herbert A.; Martinez, Francisco; Simensen, Richard J.; Stevenson, Roger E.; Pegg, Anthony E.; Schwartz, Charles E. (24 September 2003). "X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome". European Journal of Human Genetics. 11 (12): 937–944. doi:10.1038/sj.ejhg.5201072. PMID 14508504.
  5. Murray-Stewart, Tracy; Dunworth, Matthew; Foley, Jackson R.; Schwartz, Charles E.; Casero, Jr., Robert A. (7 December 2018). "Polyamine Homeostasis in Snyder-Robinson Syndrome". Medical Sciences. Polyamine Metabolism in Disease and Polyamine-Targeted Therapies. 6 (4): 112. doi:10.3390/medsci6040112. ISSN 2076-3271. PMC 6318755. PMID 30544565.
  6. 6.0 6.1 Gilreath, Ariel (March 10, 2018). "GGC hopes to create model for researching rare diseases". The Index-Journal. Archived from the original on 28 December 2019. Retrieved 1 July 2019.
  7. "X-linked intellectual disability, Snyder type". Orphanet. Archived from the original on 15 November 2017. Retrieved 1 July 2019.
  8. Miranda, Coty Dolores (January 13, 2019). "Dr. Mary Jo Kutler closes out cherished practice". Ahwatukee Foothills News. Archived from the original on 19 January 2019. Retrieved 1 July 2019.
  9. "About Us". The Snyder-Robinson Foundation. 2019-06-15. Archived from the original on 2019-07-01. Retrieved 1 July 2019.
  10. Snyder, Russell D. (July 1, 1968). "Facial Palsy Following Measles Vaccination, a Possible Connection". Pediatrics. 42 (1): 215–216. ISSN 0031-4005. PMID 5657694. Archived from the original on January 11, 2022. Retrieved July 15, 2021.
  11. Snyder, Russell D.; Robinson, Arthur (November 1, 1969). "Recessive Sex-Linked Mental Retardation in the Absence of Other Recognizable Abnormalities: Report of a Family". Clinical Pediatrics. 8 (11): 669–674. doi:10.1177/000992286900801114. PMID 5823961. S2CID 32198336.

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Classification
External resources