Living with Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
An inherited bone growth condition with short stature, short limbs, and joint pain, with normal face, head, and intelligence.
Understanding Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
All people with it have short stature. Children are not unusually short at birth, but by age 2 growth falls below the standard growth curve. Other features include short arms and legs, a waddling walk, joint pain in childhood that can lead to osteoarthritis, very flexible joints in the hands, knees, and ankles, and limited motion at the elbows and hips. Face, head size, and intelligence are normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with short arms and legs
- Joint pain that can lead to osteoarthritis
- Very flexible joints (joint hypermobility)
- Flattened spine bones (platyspondyly)
- Short fingers and toes
- Waddling walk
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 COMP 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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
This condition is caused by changes in the COMP gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: psach; pseudoachondroplasia; pseudoachondroplastic dysplasia; pseudoachondroplastic spondyloepiphyseal dysplasia; sed syndrome; spondyloepiphyseal dysplasia, pseudoachondroplastic
Patient organizations
- Little People of AmericaPseudoachondroplastic spondyloepiphyseal dysplasia syndrome · United States
- Kniest SED GroupPseudoachondroplastic spondyloepiphyseal dysplasia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome.
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