Schwartz-Jampel Syndrome Clinical Presentation
- Author: Jennifer Ault, DO, DPT; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE more...
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
Hypertrichosis of the eyelids - Ie, excessive hair, multiple rows of hair
Unusual, flattened facies with a puckered facial appearance
Small muscle mass
Skeletal and joint deformities include the following:
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.
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
Irregularity of the capital femoral epiphyses
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