Living with Spondyloepimetaphyseal dysplasia, matrilin-3 type
A rare bone condition with short limbs and early short stature, bowed legs, and a waddling walk.
Understanding Spondyloepimetaphyseal dysplasia, matrilin-3 type
It causes early short stature in which the limbs are especially short. Long bones are short, wide, and stocky, and the legs bow. The lower back curves inward, and the hands are normal. Signs may begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with short limbs
- Bowed legs
- Inward curve of the lower back (lordosis)
- Limited elbow straightening
- Waddling walk
- Short, wide, stocky long 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.
- 3Consider genetic testing
Changes in MATN3 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 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 the MATN3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: semd, matn3-related; semd, matrilin-3 type; semdbcd; spondyloepimetaphyseal dysplasia matrilin-3 type; spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type; spondyloepimetaphyseal dysplasia, matn3-related
Patient organizations
- Kniest SED GroupSpondyloepimetaphyseal dysplasia, matrilin-3 type · United States
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Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia, matrilin-3 type.
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