Living with Smith-McCort dysplasia
A rare genetic bone condition with a short trunk, short neck and short limbs, and normal intelligence.
Understanding Smith-McCort dysplasia
People have coarse facial features, a short neck, a short trunk with a barrel-shaped chest, and short upper arms and thighs. X-rays show flat spine bones and lace-like pelvic edges. Intelligence is normal. GARD says the bone features are like those of Dyggve-Melchior-Clausen syndrome, but SMC has no intellectual disability or small head. It starts in childhood.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Short trunk and short stature
- Short neck
- Barrel-shaped chest
- Short upper arms and thighs
- Coarse facial features
- Flattened spine bones
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
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: smc; smith mccort dysplasia
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 Smith-McCort dysplasia.
Explore research for Smith-McCort dysplasia
Explore actively recruiting Smith-McCort dysplasia studies with HealthSpark.
Find actively recruiting studies for Smith-McCort dysplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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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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