Living with Platyspondylic dysplasia, Torrance type
A severe bone growth condition that affects the arms, legs, spine and chest, and is present before or at birth.
Understanding Platyspondylic dysplasia, Torrance type
Babies have very short arms and legs, severely flattened spine bones (platyspondyly) and unusually short fingers and toes. The chest is small with short ribs, which can limit how much the lungs grow and expand. Signs may be seen during pregnancy, at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short arms and legs
- Flattened spine bones (platyspondyly)
- Narrow chest and underdeveloped lungs
- Short fingers and toes
- Prominent forehead and flat nasal bridge
- Extra fluid around the baby before birth
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 and genetic specialists.
- 3Consider genetic testing
Changes in COL2A1 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); 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 the COL2A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: platyspondylic dysplasia, torrance-luton type; platyspondylic lethal skeletal dysplasia, torrance type; platyspondylic skeletal dysplasia, torrance type; plsd-t; plsdt
Patient organizations
- Little People of AmericaPlatyspondylic dysplasia, Torrance type · United States
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Perspectives from people navigating life with Platyspondylic dysplasia, Torrance type.
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