Snyder-Robinson Syndrome Symptoms, Doctors, Treatments, Advances & More

Snyder-Robinson Syndrome
Symptoms, Doctors, Treatments, Advances & More

Snyder-Robinson Syndrome Overview

Definition
Alternate Names
Top Doctors
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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

Dr. Alvaro H. Russi

Pediatrics

Advanced in Snyder-Robinson Syndrome

Dr. Alvaro H. Russi

Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd,

Johnson City, TN

423-439-7320

Languages Spoken:

English

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. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Snyder-Robinson Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

Experienced in Snyder-Robinson Syndrome

Dr. Philip L. Goolsby

Family Medicine

Experienced in Snyder-Robinson Syndrome

Dr. Philip L. Goolsby

Family Medicine

Aurora Family Medicine

1565 Allouez Ave,

Green Bay, WI

920-468-2400

Experience:

44+ years

Languages Spoken:

English

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Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby has been practicing medicine for over 44 years and is rated as an Experienced provider by MediFind in the treatment of Snyder-Robinson Syndrome. His top areas of expertise are Schnitzler Syndrome, Monoclonal Gammopathy of Undetermined Significance (MGUS), Movement Disorders, and Parkinson's Disease.

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Experienced in Snyder-Robinson Syndrome

Dr. David S. Stolp

Family Medicine

Experienced in Snyder-Robinson Syndrome

Dr. David S. Stolp

Family Medicine

Aurora Family Medicine

2424 S 90th St, Ste 200,

West Allis, WI

414-328-8777

Languages Spoken:

English

See accepted insurances

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Snyder-Robinson Syndrome. His top areas of expertise are Cerebral Palsy, Nijmegen Breakage Syndrome, Ruvalcaba Syndrome, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.