Overview
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism syndrome is an extremely rare genetic bone disorder that affects the growth and development of the skeleton. The name describes its main features: 'spondylo' refers to the spine, 'metaphyseal' refers to the growing ends of long bones, and 'dysplasia' means abnormal development. People with this condition typically have abnormalities in their vertebrae (bones of the spine), unusual changes at the ends of their long bones (metaphyseal irregularities), characteristic bowing of the forearm bones, and distinctive facial features. The condition is usually noticed in early childhood when skeletal differences become apparent. Key features may include short stature, bowed forearms, a flattened appearance of the vertebrae (platyspondyly), and facial features such as a flat midface or broad forehead. Because the bones are affected throughout the body, children may experience difficulty with movement and may be shorter than expected for their age. There is currently no cure for this condition. Treatment focuses on managing symptoms and may include orthopedic interventions to address bone deformities, physical therapy to maintain mobility, and regular monitoring of growth and skeletal development. Pain management and supportive care are also important parts of the treatment plan. Because this is such a rare condition, management is typically guided by a team of specialists who tailor care to each individual's needs.
Key symptoms:
Short statureBowed forearmsAbnormal curvature or flattening of the spine bonesDistinctive facial featuresFlat or broad faceIrregularities at the ends of long bonesLimited range of motion in the armsJoint stiffnessWaddling gait or difficulty walkingLeg bowingShort limbs relative to the trunkBroad forehead
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism 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 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome.
Community
No community posts yet. Be the first to share your experience with Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome.
Start the conversation →Latest news about Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
No recent news articles for Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome.
Follow this condition to be notified when news becomes available.
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 abnormalities does my child have, and how might they change over time?,Is genetic testing available to confirm the diagnosis, and should other family members be tested?,What orthopedic treatments or surgeries might be needed as my child grows?,How often should we schedule follow-up X-rays and specialist visits?,Are there physical activities my child should avoid to protect their bones?,What support services are available for growth and developmental concerns?,Are there any clinical trials or research studies we could participate in?
Common questions about Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
What is Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome?
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism syndrome is an extremely rare genetic bone disorder that affects the growth and development of the skeleton. The name describes its main features: 'spondylo' refers to the spine, 'metaphyseal' refers to the growing ends of long bones, and 'dysplasia' means abnormal development. People with this condition typically have abnormalities in their vertebrae (bones of the spine), unusual changes at the ends of their long bones (metaphyseal irregularities), characteristic bowing of the forearm bones, and distinctive facial featur
How is Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome inherited?
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome typically begin?
Typical onset of Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is childhood. Age of onset can vary across affected individuals.