Living with Skeletal dysplasia-epilepsy-short stature syndrome
A rare genetic condition with bone differences, seizures, short height and learning challenges.
Understanding Skeletal dysplasia-epilepsy-short stature syndrome
People have bone differences in the pelvis and spine, short stature and seizures. They have moderate to severe intellectual disability, and shrinkage of the brain on imaging. Other findings can include eye problems, cataracts, a big lower jaw, crowded or misaligned teeth, short fingers and loose joints. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Intellectual disability
- Short stature
- Bone differences (skeletal dysplasia)
- Scoliosis and hunched back
- Hip dysplasia
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); 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
- 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
GARD says changes in genes cause this condition, but it doesn't list a gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: gurrieri sammito bellussi syndrome; gurrieri-sammito-bellussi syndrome; skeletal dysplasia with epilepsy and short stature syndrome
Patient organizations
- Little People of AmericaSkeletal dysplasia-epilepsy-short stature syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Skeletal dysplasia-epilepsy-short stature syndrome.
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