Living with Schwartz-Jampel syndrome
A rare condition with constant muscle stiffness and bone differences that shorten height, usually showing in early childhood.
Understanding Schwartz-Jampel syndrome
Signs usually show in early childhood, and either muscle stiffness or bone differences can appear first. Constant muscle tensing interferes with eating, sitting, and walking and gives a fixed, mask-like face with narrow eye openings and pursed lips. Bones are shortened, causing short stature. Features vary widely.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness (myotonia)
- Mask-like face with narrow eye openings
- Short stature with bowed long bones
- Joint contractures
- Nearsightedness and cataracts
- Eyelid spasms or abnormal blinking
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in HSPG2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the HSPG2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aberfeld syndrome; burton skeletal dysplasia; burton syndrome; catel hempel syndrome; catel-hempel syndrome; catel-hempel type dysostosis enchondralis metaepiphysaria
Patient organizations
- Little People of AmericaSchwartz-Jampel syndrome · United States
- Malignant Hyperthermia Association of the United StatesSchwartz-Jampel syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Schwartz-Jampel syndrome.
Explore research for Schwartz-Jampel syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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