The Snyder-Robinson Foundation
Cycle 1
Snyder-Robinson Syndrome (SRS) is an ultra-rare genetic disorder that affects males. SRS is characterized by intellectual disability, muscle and bone abnormalities, developmental delays, and sometimes other medical problems.
Last updated 04/30/2025
Clinical
Disease Class
Genetic diseases
Body Systems
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Organs
Blood
Bones
Brain
Connective tissue / joints
Ears
Eyes
Heart
Intestines
Kidneys
Liver
Lungs
Muscles
Nose
Stomach
Throat/pharynx
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
SMS
contributory_genes
None specified / unknown
Type of Inheritance
De novo
X-linked recessive
Newborn Screening
No
Disease Mechanism(s)
Spermine synthase deficiency
Age of Onset
Infancy (age 0-1)
Prebirth
Average Age at Diagnosis
Adolescence (12-17)
Middle childhood (6-11)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Affected Sex(es)
Male
Other
National Prevalence
51-100
Global Prevalence
101-1000
National Incidence
Less than 10
Global Incidence
Unknown
Symptoms / Phenotypes
asthenic build
developmental delay
distinctive facial features
hypotonia
intellectual delay / global developmental delay
kidney disease / nephropathy
osteoporosis
seizures / epilepsy
speech problems / apraxia
Biomarkers
Diagnostic
· mutations in the sms gene, EpiSign, polyamine ratios (research based)
Existing Therapies
FDA-Approved for Symptom Relief
· bisphosphonates, anticonvulsants
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
Drosophila/fly
Mouse
Disease Model, Involvement
Consulted
Funded
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Not involved
Biobank, Institution
None
Center of Excellence, Institution
International Center for Polyamine Disorders (ICPD) / Corewell Health
Center of Excellence, Involvement
Endorsed/Certified/Accredited
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Clinical data
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient-reported data
Data Entered by, Registry
Other
Platform, Registry
Limfinity RURO
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Genetic data
Imaging data
Medication usage
Prospective data
Retrospective data
Platform, Natural History Study
Limfinity RURO
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
Yes, we have guidance available on our website
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
None