Living with Spondyloepimetaphyseal dysplasia, PAPSS2 type
A rare bone condition with short stature, short bowed legs, and early joint wear, with normal intelligence.
Understanding Spondyloepimetaphyseal dysplasia, PAPSS2 type
People have short stature, short and bowed lower limbs, and mildly short fingers. The spine may curve (kyphoscoliosis), and walking may be affected. The knee joints are enlarged, and joint wear may start early. Intelligence is normal. Signs may begin in the newborn or infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Short stature
- Short, bowed lower limbs
- Mildly short fingers
- Curved spine (kyphoscoliosis)
- Enlarged knee joints
- Early joint wear (osteoarthropathy)
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 PAPSS2 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
- 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 PAPSS2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: brachyolmia 4 with mild epiphyseal and metaphyseal changes; brachyolmia type 4 with mild epiphyseal and metaphyseal changes; semd, pakistani type; spondylodysplasia and premature pubarche; spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type; spondyloepimetaphyseal dysplasia pakistani type
Patient organizations
- Little People of AmericaSpondyloepimetaphyseal dysplasia, PAPSS2 type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia, PAPSS2 type.
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