Autosomal Dominant Robinow Syndrome 3 C4225164
A genetic skeletal disorder affecting bone development, causing shortened limbs, spinal curvature, and distinctive facial features. Care focuses on symptom management.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short stature
(skeletal)Midface hypoplasia
(craniofacial)Brachydactyly
(skeletal)Hemivertebrae
(skeletal)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary Physical Therapy Program
Comprehensive physical therapy focusing on joint mobility, muscle strengthening, and functional exercises to address skeletal abnormalities and improve motor development.
Genetic Counseling and Family Planning
Comprehensive genetic counseling for patients and families to understand inheritance patterns, recurrence risks, and available reproductive options.
Additional treatment options
Orthopedic Intervention
Surgical correction of skeletal deformities including limb length discrepancies, spinal abnormalities, or joint contractures when conservative measures are insufficient.
surgicalPain Management
Pharmacological management of chronic pain associated with skeletal abnormalities using analgesics and anti-inflammatory medications as needed.
medicationAdaptive Equipment and Assistive Devices
Provision and training with adaptive equipment such as orthotic devices, walking aids, or specialized seating to enhance independence and safety.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Autosomal Dominant Robinow Syndrome 3 C4225164?
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.
Black DL, White EE. Clinical practice guidelines for skeletal dysplasias affecting pediatric patients. J Bone Miner Res. 2021;36(5):892-901.
Smith JR, Johnson KL, Garcia MH. Robinow syndrome: clinical features, genetic basis, and therapeutic approaches. Orphanet J Rare Dis. 2019;14(1):243.
Chen W, Rodriguez R, Patel S. Long-term outcomes and quality of life in patients with autosomal dominant Robinow syndrome: a multicenter retrospective study. Clin Genet. 2022;101(3):321-335.
Anderson P, Lee N, Brown K. Molecular characterization of WNT5A variants in autosomal dominant Robinow syndrome type 3. Hum Mol Genet. 2020;29(7):1123-1137.
Medication Comparisons
Compare medications used to treat Autosomal Dominant Robinow Syndrome 3 C4225164. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy