Schwartz-Jampel Syndrome Clinical Presentation

  • Author: Jennifer Ault, DO, DPT; Chief Editor: Nicholas Lorenzo, MD   more...
 
Updated: Feb 1, 2012
 

History

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.

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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
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Contributor Information and Disclosures
Author

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, and American Physical Therapy Association

Disclosure: Nothing to disclose.

Coauthor(s)

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, and 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: Janssen Pharmaceuticals Grant/research funds PI conpensation

Chief Editor

Nicholas Lorenzo, MD  Consulting Staff, Neurology Specialists and Consultants

Nicholas Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and American College of Physician Executives

Disclosure: Nothing to disclose.

Additional Contributors

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

References

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  2. Begam MA, Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM. Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones. Ultrasound Obstet Gynecol. Nov 2011;38(5):553-8. [Medline].

  3. Di Rocco M, Stella G, Bruno C, et al. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet A. May 1 2003;118(4):362-8. [Medline].

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  5. Nicole S, Ben Hamida C, Beighton P, et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet. Sep 1995;4(9):1633-6. [Medline].

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  13. Regalo SC, Vitti M, Semprini M, et al. The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis. Electromyogr Clin Neurophysiol. Apr-May 2005;45(3):183-9. [Medline].

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