Living with Spondyloepimetaphyseal dysplasia, Genevieve type
A rare bone condition with short stature, developmental delay, intellectual disability, and facial differences.
Understanding Spondyloepimetaphyseal dysplasia, Genevieve type
People have short stature and bone changes seen on X-rays. GARD also describes severe developmental delay and moderate to severe intellectual disability. Facial features include a prominent forehead, a flattened nasal bridge, and full lips. Signs may begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Shrinking of part of the brain (cerebral atrophy)
- Developmental delay
- Intellectual disability
- Prominent forehead and full lips
- Seizures (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.
- 3Consider genetic testing
Changes in NANS 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 NANS gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: nans deficiency; semd genevieve type; semd, geneviève type; semdg; semdg - spondyloepimetaphyseal dysplasia genevieve type; spondyloepimetaphyseal dysplasia genevieve type
Patient organizations
- Kniest SED GroupSpondyloepimetaphyseal dysplasia, Genevieve type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia, Genevieve type.
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