Living with Spondylometaphyseal dysplasia, Sedaghatian type
A rare bone condition present from pregnancy or birth, with bone changes, low muscle tone, and heart and breathing issues.
Understanding Spondylometaphyseal dysplasia, Sedaghatian type
It involves severe changes at the wide ends of the long bones, mildly short upper arms, and mild flattening of the spine bones. GARD also lists a narrow chest, low muscle tone, breathing trouble, and heart rhythm problems. 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:
- Disproportionate short stature
- Narrow chest
- Low muscle tone
- Trouble breathing
- Heart rhythm problems
- Small cerebellum (part of the brain)
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 GPX4 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 GPX4 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: lethal metaphyseal dysplasia; metaphyseal chondrodysplasia, congenital lethal; sedaghatian chondrodysplasia
Patient organizations
- Kniest SED GroupSpondylometaphyseal dysplasia, Sedaghatian type · United States
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