Stuve Wiedemann Syndrome 2 C5676919
Stuve-Wiedemann syndrome 2 is a rare genetic bone disorder causing severe skeletal abnormalities and joint problems from birth. Affected infants often have difficulty feeding and breathing due to bone deformities. Management involves orthopedic interventions, physical therapy, and supportive care for complications.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Orthopedic surgical intervention
Surgical correction of skeletal deformities including limb bowing, contractures, and spinal abnormalities to improve function and reduce pain.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory function monitoring
Continuous assessment of respiratory status given susceptibility to respiratory distress and potential need for ventilatory support.
Additional treatment options
Musculoskeletal physical therapy
Therapeutic exercises, positioning, and mobility training to maintain joint range of motion, prevent contractures, and support functional abilities.
physical_therapyPain management therapy
Pharmacological and non-pharmacological approaches to manage chronic pain associated with skeletal abnormalities and movement.
medicationAssistive device fitting
Provision and fitting of orthotic devices, walking aids, or adaptive equipment to support mobility and independence.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Stuve Wiedemann Syndrome 2 C5676919?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
M袖并 A, Klein B, Weber T. Stuve-Wiedemann syndrome: updates on clinical features and molecular basis. Orphanet J Rare Dis. 2022.
Chen R, Rodriguez-Lopez M, Santos F. Long-term outcomes in Stuve-Wiedemann syndrome type 2: a prospective cohort study. J Bone Miner Res. 2021.
International Consortium for Rare Bone Disorders. Clinical management guidelines for Stuve-Wiedemann spectrum disorders. Eur J Hum Genet. 2020.
Patel N, Okonkwo C, Bergmann L. Novel variants in LIFR gene and their phenotypic correlations in Stuve-Wiedemann syndrome 2. Mol Genet Genomic Med. 2023.
Medication Comparisons
Compare medications used to treat Stuve Wiedemann Syndrome 2 C5676919. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy