Overview
Malformation syndrome with short stature is a broad term used in medical classification to describe a group of rare genetic conditions where a person is born with both physical malformations (structural differences in the body) and notably short stature (being significantly shorter than expected for their age and sex). These conditions are present from birth or become apparent in early childhood. The specific features can vary widely depending on the exact underlying cause, but commonly include skeletal abnormalities, distinctive facial features, and growth problems that lead to short stature. Some individuals may also have differences in their internal organs, such as the heart or kidneys, and some may experience learning difficulties or developmental delays. Because this is a grouping of related conditions rather than a single well-defined disease, the exact symptoms, severity, and outlook depend heavily on the specific diagnosis within this category. Treatment is generally supportive and tailored to each person's needs. This may include growth hormone therapy to help with height, orthopedic care for bone and joint problems, surgery to correct structural differences, physical therapy, and developmental support services. Regular monitoring by a team of specialists is important to address the various aspects of the condition as a child grows. Genetic testing has become increasingly important in identifying the specific cause, which can help guide treatment decisions and provide families with more accurate information about what to expect.
Key symptoms:
Short stature or growth failureSkeletal abnormalities such as abnormal bone shape or sizeDistinctive facial featuresDelayed growth milestonesJoint problems or limited range of motionDifferences in hand or finger structureSpine curvature or other spinal abnormalitiesHeart defects present at birthKidney or urinary tract differencesDevelopmental delays or learning difficultiesFeeding difficulties in infancyLow muscle toneHearing problemsVision problems
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Malformation syndrome with short stature.
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View all trials with filters →No actively recruiting trials found for Malformation syndrome with short stature at this time.
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Rare Disease Specialist
Rare Disease Specialist
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 Malformation syndrome with short stature.
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 is the specific diagnosis within this category, and has genetic testing identified the cause?,Would growth hormone therapy be appropriate for my child?,What specialists should we be seeing regularly, and how often?,Are there any heart, kidney, or other organ problems we need to monitor?,What is the expected growth pattern and adult height for my child?,Is this condition inherited, and should other family members be tested?,What early intervention services and therapies would benefit my child the most?
Common questions about Malformation syndrome with short stature
What is Malformation syndrome with short stature?
Malformation syndrome with short stature is a broad term used in medical classification to describe a group of rare genetic conditions where a person is born with both physical malformations (structural differences in the body) and notably short stature (being significantly shorter than expected for their age and sex). These conditions are present from birth or become apparent in early childhood. The specific features can vary widely depending on the exact underlying cause, but commonly include skeletal abnormalities, distinctive facial features, and growth problems that lead to short stature.
At what age does Malformation syndrome with short stature typically begin?
Typical onset of Malformation syndrome with short stature is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Malformation syndrome with short stature?
25 specialists and care centers treating Malformation syndrome with short stature are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.