Living with Spondyloepimetaphyseal dysplasia, Shohat type
A rare bone condition with very short stature, short limbs, a small chest, and loose joints.
Understanding Spondyloepimetaphyseal dysplasia, Shohat type
Limbs are short, the chest is small, and the neck is short. People may have a strong inward curve of the lower back, bowed legs, loose joints, and a swollen belly. The liver and spleen may be mildly enlarged. Signs may begin during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature with short limbs
- Small chest
- Flattened spine bones (platyspondyly)
- Curved spine (scoliosis)
- Joint pain and early arthritis
- Thin bones (bone demineralization)
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 DDRGK1 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 DDRGK1 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 shohat type; semd, shohat type; spondyloepimetaphyseal dysplasia shohat type
Patient organizations
- Kniest SED GroupSpondyloepimetaphyseal dysplasia, Shohat type · United States
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Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia, Shohat type.
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