Living with Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
A rare genetic syndrome with bone growth differences, short stature, developmental delay, and distinct facial features.
Understanding Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
It begins in the newborn or infant period. Features include delayed development, intellectual disability, worsening bone changes in the spine and ends of the long bones, short stature, and short fourth metatarsals (foot bones). A small head and distinct facial features are common. Early closing of skull seams (craniosynostosis) and low muscle tone have also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in development and intellectual disability
- Short stature with a short trunk
- Small head size (microcephaly)
- Early closing of skull seams (craniosynostosis)
- Hip and knee bone changes
- Delayed bone maturation
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RSPRY1 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); Brain and nervous system specialists (neurologists); 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 rare disease patient organizations for support
- 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 RSPRY1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome; semdfa; spondyloepimetaphyseal dysplasia, faden-alkuraya type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
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