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Schwartz-Jampel Syndrome Clinical Presentation

  • Author: Jennifer Ault, DO, DPT; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
Updated: Oct 09, 2014


The parents of patients with Schwartz-Jampel syndrome (SJS) usually note dysmorphic features, muscle stiffness, and muscle weakness, frequently soon after birth or within the first year of life. They may report that their child's muscles are stiff and hypertrophic.

The stiffness is usually evident when the parents flex the child's limbs. The weakness takes the form of delay in achieving motor milestones. For example, walking frequently is delayed. Nevertheless, in most cases, the children do learn to walk and become entirely self-sufficient.

When they are older, patients notice the muscle stiffness, which is usually most severe in the thighs. Patients also report limitations of joint flexion in various joints, particularly the knees.

Signs of SJS also include the following:

  • Narrow palpebral fissures with normal eyelid development
  • Blepharospasm
  • Hypertrichosis of the eyelids - Ie, excessive hair, multiple rows of hair
  • Micrognathia
  • Unusual, flattened facies with a puckered facial appearance
  • Small muscle mass

Skeletal and joint deformities include the following:

  • Short neck
  • Pectus carinatum - Convex chest; ie, chest is bowed out
  • Kyphosis - Convex angulation of the spine, giving a humpback appearance
  • Coxa valga - Hip deformity involving an increased neck-shaft angle of the femur
  • Irregularity of the capital femoral epiphyses

According to one report, the incidence of mental retardation in patients with SJS is high (20%). However, most patients are of normal intelligence, and high intelligence is not incompatible with this condition.


Physical Examination

The dysmorphic features of SJS are usually evident on physical examination. Most patients are short with narrow palpebral fissures (blepharophimosis), flattened facies, and micrognathia. Some patients show blepharospasm in addition to the blepharophimosis. The muscles are stiff and they can be either hypertrophic or reduced in mass.

Bony abnormalities include the following:

  • Joint deformities and limitations of joint motion
  • Coxa valga
  • Irregularity of the capital femoral epiphyses
  • Kyphosis
  • Short neck
  • Pectus carinatum
Contributor Information and Disclosures

Jennifer Ault, DO, DPT Resident Physician, Department of Neurology, Dartmouth-Hitchcock Medical Center

Jennifer Ault, DO, DPT is a member of the following medical societies: American Academy of Neurology, American Academy of Osteopathy, American Medical Association, American Physical Therapy Association

Disclosure: Nothing to disclose.


Stephen A Berman, MD, PhD, MBA Professor of Neurology, University of Central Florida College of Medicine

Stephen A Berman, MD, PhD, MBA is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, Phi Beta Kappa

Disclosure: Nothing to disclose.

Eric Dinnerstein, MD Consulting Staff Neurologist, Maine Medical Partners Neurology

Eric Dinnerstein, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Received grant/research funds from Janssen Pharmaceuticals for pi conpensation.

Chief Editor

Nicholas Lorenzo, MD, MHA, CPE Founding Editor-in-Chief, eMedicine Neurology; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc

Nicholas Lorenzo, MD, MHA, CPE is a member of the following medical societies: Alpha Omega Alpha, American Association for Physician Leadership, American Academy of Neurology

Disclosure: Nothing to disclose.


Daniel H Jacobs, MD, FAAN Associate Professor of Neurology, University of Florida College of Medicine

Daniel H Jacobs, MD, FAAN is a member of the following medical societies: American Academy of Neurology, American Society of Neurorehabilitation, and Society for Neuroscience

Disclosure: Teva Pharmaceutical Grant/research funds Consulting; Biogen Idex Grant/research funds Independent contractor; Serono EMD Royalty Speaking and teaching; Pfizer Royalty Speaking and teaching; Berlex Royalty Speaking and teaching

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

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