Living with Spondylometaphyseal dysplasia, Golden type
A rare X-linked bone condition with severe short stature, coarse facial features, and enlarged, stiff joints.
Understanding Spondylometaphyseal dysplasia, Golden type
People have coarse facial features, a curved spine, and enlarged joints that can't fully straighten. Delayed movement and learning skills and intellectual disability may also occur. X-rays show flat spine bones and changes in the long bones and skull base. GARD notes no further descriptions in the literature since 1977.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Severe short stature
- Coarse facial features
- Curved spine (kyphoscoliosis)
- Enlarged, stiff joints
- Delayed motor and thinking skills
- 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 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 Kniest SED Group
- 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 X-linked, meaning the gene is on the X chromosome. GARD doesn't list which gene.
Also known as: spondylometaphyseal dysplasia golden type; spondylometaphyseal dysplasia richmond type; x-linked spondylometaphyseal dysplasia
Patient organizations
- Kniest SED GroupSpondylometaphyseal dysplasia, Golden type · United States
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Perspectives from people navigating life with Spondylometaphyseal dysplasia, Golden type.
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