Living with Spondylometaphyseal dysplasia, A4 type
A rare bone condition with severe short stature, short limbs, and changes in the spine and hip bones.
Understanding Spondylometaphyseal dysplasia, A4 type
People have severe short stature with shorter limbs and short palms. X-rays show flattened spine bones, a deformed neck of the thigh bone, and marked changes in the wide parts of long bones. Some people have limited joint movement. Signs may begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Short limbs
- Short palms
- Flattened spine bones (platyspondyly)
- Hip bone angle change (coxa vara)
- Limited joint movement (less common)
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 autosomal recessive, meaning a child inherits a changed copy of a gene from each parent. GARD doesn't list which gene.
Also known as: spondylometaphyseal dysplasia a4 type
Patient organizations
- Kniest SED GroupSpondylometaphyseal dysplasia, A4 type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondylometaphyseal dysplasia, A4 type.
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