Living with Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
A rare bone condition that combines short stature with vision loss from retina changes.
Understanding Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
People have bone changes in the spine and long bones, slowed growth after birth, and vision loss that gets worse over time. The vision loss comes from cone-rod dystrophy, a condition of the light-sensing cells in the retina. It has been described in eight people so far.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Vision loss from cone-rod dystrophy
- Short upper arms and thighs
- Flattened spine bones (platyspondyly)
- Bowed legs
- Hip angle change (coxa vara)
- Abnormal retina color
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PCYT1A 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); Eye disease specialists (ophthalmologists); 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 PCYT1A gene cause this condition. It appears to be autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: smd-crd
Patient organizations
- Kniest SED GroupSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome · United States
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