Living with Spondyloepiphyseal dysplasia tarda, Kohn type
A rare bone condition with a short trunk, spine and joint changes, and mild to moderate learning difficulty.
Understanding Spondyloepiphyseal dysplasia tarda, Kohn type
People have short stature with a short trunk. The spine and the ends of the long bones are increasingly affected over time. GARD also lists mild to moderate intellectual disability. Signs may begin in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with a short trunk
- Flattened spine bones (platyspondyly)
- Stiff large joints
- Hip, knee, and ankle bone differences
- Pelvis bone differences
- Mild intellectual disability
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
Changes in genes (variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of a gene from each parent. GARD doesn't list which gene.
Patient organizations
- Little People of AmericaSpondyloepiphyseal dysplasia tarda, Kohn type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia tarda, Kohn type.
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