Snyder-Robinson Syndrome
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Learn About Snyder-Robinson Syndrome

What is the definition of Snyder-Robinson Syndrome?
Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other features include thinning of the bones (osteoporosis), an abnormal curvature of the spine (kyphoscoliosis), and unusual facial features including a prominent lower lip, cleft palate, and facial asymmetry. Snyder-Robinson syndrome is caused by genetic changes in the SMS gene and is inherited in an X-linked recessive fashion.
What are the alternative names for Snyder-Robinson Syndrome?
  • Snyder-Robinson syndrome
  • SRS
  • X-linked mental retardation Snyder-Robinson type
Who are the top Snyder-Robinson Syndrome Local Doctors?
Advanced in Snyder-Robinson Syndrome
Advanced in Snyder-Robinson Syndrome

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Snyder-Robinson Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

Experienced in Snyder-Robinson Syndrome
Pediatric Nephrology
Experienced in Snyder-Robinson Syndrome
Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C, 
Charlotte, NC 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Snyder-Robinson Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.

 
 
 
 
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Experienced in Snyder-Robinson Syndrome
Experienced in Snyder-Robinson Syndrome

St. Christopher's Pediatric Associates Neurology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

Joseph Melvin is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Melvin is rated as an Experienced provider by MediFind in the treatment of Snyder-Robinson Syndrome. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), West Syndrome, and Seizures. Dr. Melvin is board certified in American Board Of Psychiatry And Neurology.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center