Living with Tall stature-scoliosis-macrodactyly of the great toes syndrome
A rare genetic overgrowth condition with tall stature, a curved spine, and long, large big toes.
Understanding Tall stature-scoliosis-macrodactyly of the great toes syndrome
Growth is early and in proportion, leading to tall stature. People may have thin bones (osteopenia), a curve in the lower spine (scoliosis), and long, slender fingers and toes. The big toes are large. The hips are shaped differently, and the upper thigh bone may slip out of place (slipped capital femoral epiphysis). Signs may begin in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tall stature
- Curved spine (scoliosis)
- Long, broad big toes
- Long, slender fingers (arachnodactyly)
- Thin bones (osteopenia)
- Curved little fingers
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 NPR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 NPR2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: epiphyseal chondrodysplasia, miura type; tall stature-long halluces-multiple extra-epiphyses syndrome; tall stature-scoliosis-macrodactyly of the halluces syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tall stature-scoliosis-macrodactyly of the great toes syndrome.
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