Overview
Progressive spondyloepimetaphyseal dysplasia with short stature, short fourth metatarsals, and intellectual disability syndrome is an extremely rare genetic skeletal disorder. The name describes its main features: 'spondylo' refers to the spine, 'epi' to the ends of bones near joints, and 'metaphyseal' to the growing areas of bones. 'Dysplasia' means abnormal development. Together, this means the bones of the spine, joints, and growth plates do not develop properly, leading to progressive skeletal problems over time. People with this condition typically have short stature that becomes more noticeable as they grow. A distinctive feature is unusually short fourth metatarsal bones, which are the long bones in the feet connected to the fourth toe. This can sometimes be seen as a shortened fourth toe. Intellectual disability of varying degrees is also a core feature of this syndrome, which can affect learning, reasoning, and daily functioning. Because this condition is so rare, the treatment landscape is limited and primarily supportive. There is no cure or disease-modifying therapy currently available. Management focuses on addressing individual symptoms, such as orthopedic care for skeletal problems, educational support for intellectual disability, and physical therapy to maintain mobility. Regular monitoring by a team of specialists is important to track the progressive nature of the bone changes and to intervene early when complications arise.
Key symptoms:
Short statureAbnormally short fourth toe or metatarsal boneIntellectual disabilitySpine abnormalities that worsen over timeJoint problems or stiffnessAbnormal bone growth at the ends of long bonesAbnormal growth plates in bonesWaddling or abnormal gaitLimb length differences or bowingBack pain or curvature of the spineDelayed motor milestonesLearning difficulties
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific skeletal changes does my child have, and how are they likely to progress over time?,What genetic testing has been done, and should we consider whole exome or genome sequencing?,What therapies or interventions can help my child reach their full developmental potential?,How often should we have X-rays or other imaging to monitor bone changes?,Are there any warning signs of spinal cord compression I should watch for at home?,Would my child benefit from growth hormone therapy or other medical treatments?,Can you connect us with other families or support groups for rare skeletal dysplasias?
Common questions about Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
What is Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome?
Progressive spondyloepimetaphyseal dysplasia with short stature, short fourth metatarsals, and intellectual disability syndrome is an extremely rare genetic skeletal disorder. The name describes its main features: 'spondylo' refers to the spine, 'epi' to the ends of bones near joints, and 'metaphyseal' to the growing areas of bones. 'Dysplasia' means abnormal development. Together, this means the bones of the spine, joints, and growth plates do not develop properly, leading to progressive skeletal problems over time. People with this condition typically have short stature that becomes more no
How is Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome inherited?
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome typically begin?
Typical onset of Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.