Overview
SHOX-related short stature is a genetic condition caused by changes in or near the SHOX gene (Short Stature Homeobox-containing gene), which plays an important role in bone growth, especially in the long bones of the arms and legs. This condition is one of the most common genetic causes of short stature. People with SHOX-related short stature are shorter than expected for their family, and the degree of short stature can range from mild to more significant. Some individuals may also develop a condition called Madelung deformity, where the wrist bones grow unevenly, causing the wrist to look bent or curved. Other features can include shorter forearms and lower legs compared to the upper arms and thighs, a wider and more stocky body build, and increased carrying angle of the elbows. The condition affects both males and females, though females tend to be more noticeably affected because they lack a second functional copy of the SHOX gene on their X chromosome. Treatment with growth hormone therapy has been approved and can help increase final adult height, especially when started early in childhood. SHOX-related short stature includes a spectrum that ranges from isolated short stature to Léri-Weill dyschondrosteosis, which involves more pronounced skeletal features. The condition is also sometimes referred to as SHOX deficiency or SHOX haploinsufficiency.
Key symptoms:
Short stature (shorter than expected for family height)Disproportionately short forearmsDisproportionately short lower legsMadelung deformity (curved or bent wrists)Increased carrying angle of the elbows (arms angle outward)Stocky or muscular body buildShort hands and feetWrist pain or limited wrist movementBowing of the forearm bonesHigh-arched palateShort neckDelayed growth during childhood and puberty
Clinical phenotype terms (16)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for SHOX-related short stature.
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Specialists
View all specialists →No specialists are currently listed for SHOX-related short stature.
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 SHOX-related short stature.
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
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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.How severe is my child's SHOX deficiency, and what final adult height can we expect with and without treatment?,Is growth hormone therapy recommended, and when should we start?,How will we monitor for Madelung deformity, and what signs should I watch for?,Are there any side effects of growth hormone therapy I should know about?,Should other family members be tested for SHOX deficiency?,Will my child need any orthopedic evaluations or treatments?,How often should we have follow-up appointments to track growth progress?
Common questions about SHOX-related short stature
What is SHOX-related short stature?
SHOX-related short stature is a genetic condition caused by changes in or near the SHOX gene (Short Stature Homeobox-containing gene), which plays an important role in bone growth, especially in the long bones of the arms and legs. This condition is one of the most common genetic causes of short stature. People with SHOX-related short stature are shorter than expected for their family, and the degree of short stature can range from mild to more significant. Some individuals may also develop a condition called Madelung deformity, where the wrist bones grow unevenly, causing the wrist to look be
At what age does SHOX-related short stature typically begin?
Typical onset of SHOX-related short stature is childhood. Age of onset can vary across affected individuals.