Living with Spondyloepimetaphyseal dysplasia, Bieganski type
An X-linked condition affecting bones and the nervous system, with short stature, movement and vision problems.
Understanding Spondyloepimetaphyseal dysplasia, Bieganski type
It causes slowly worsening bone and nerve problems, such as short stature, large and deformed joints, and trouble with movement. Vision problems occur, and some people have learning difficulties. Development is usually normal in the first year or so, then skills may be lost and symptoms appear. Brain scans show changes in the white matter, the brain's wiring.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Large knees and enlarged wrists
- Trouble walking, including toe walking
- Muscle stiffness in the legs (spastic paraplegia)
- Vision problems
- 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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in AIFM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America and United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, United Leukodystrophy Foundation
- 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 Little People of America and other patient organizations
- 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 AIFM1 gene cause this condition. It is X-linked recessive, meaning the gene is on the X chromosome.
Also known as: h-smd; hypomyelination-spondyloepimetaphyseal dysplasia syndrome; leukoencephalopathy with metaphyseal chondrodysplasia; leukoencephalopathy-metaphyseal chondrodysplasia syndrome; leukoencephalopathy-semd syndrome; leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Patient organizations
- Little People of AmericaSpondyloepimetaphyseal dysplasia, Bieganski type · United States
- Kniest SED GroupSpondyloepimetaphyseal dysplasia, Bieganski type · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia, Bieganski type.
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