The Snyder-Robinson Foundation

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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 May 2024

Clinical
Disease Class
Rare 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
Genes
SMS
Type of Inheritance
X-linked recessive
Disease Mechanism(s)
Enzyme deficiency
Spermine synthase deficiency
Age of Onset
Infancy (age 0-1)
Incidence
Unknown
Prevalence
Unknown
Symptoms / Phenotypes
asthenic build
distinctive facial features
hypotonia
osteoporosis
scoliosis / spinal curvature
speech problems / apraxia
Biomarkers
Diagnostic
· mutations in the sms gene, EpiSign, polyamine ratios (research based)
Existing Therapies
Expanded access to drugs
· We are in the process of implementing EA for DFMO to treat SRS
Organizational & Research
Cell Lines
Fibroblasts
LCLs
Cell Lines, location
International Center for Polyamine Disorders (ICPD) / Corewell Health
Cell Lines, share
IDK
Disease Model
Drosophila/fly
Mouse
Disease Model, location
Jackson Laboratories (JAX)
University of Miami
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
International Center for Polyamine Disorders (ICPD) / Corewell Health
Center of Excellence
Spectrum Health West Michigan
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
Clinical/Treatment Guidelines
Yes
Organizational Roles
No full-time staff
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