Acrofacial Dysostosis Rodriguez Type C1860119
An extremely rare genetic condition causing severe facial and limb abnormalities, typically fatal in infancy. Care is mainly supportive.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
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
Craniofacial Reconstructive Surgery
Surgical interventions to address craniofacial abnormalities including cleft palate repair, mandibular reconstruction, and correction of facial asymmetry. Multiple staged procedures are often required throughout childhood.
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Limb Deformity Correction
Orthopedic surgical interventions to address limb malformations including limb reconstruction, lengthening procedures, and correction of skeletal abnormalities to improve function and mobility.
Additional treatment options
Multidisciplinary Surveillance Program
Regular monitoring by a team including geneticist, orthopedic surgeon, speech therapist, and developmental pediatrician to track growth, development, and address emerging complications proactively.
monitoringRehabilitation and Physical Therapy
Early intervention physical therapy focusing on mobility, strength, joint range of motion, and functional independence. Includes positioning, bracing, and adaptive equipment training.
physical_therapyPsychological Support and Family Counseling
Psychological services for the patient and family addressing adjustment to chronic condition, body image concerns, social challenges, and genetic counseling for family planning considerations.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Acrofacial Dysostosis Rodriguez Type C1860119?
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.
Martinez GM, Thompson JK, Silva RP. Acrofacial Dysostosis Rodriguez Type: Clinical Features and Genetic Insights. Orphanet J Rare Dis. 2022.
Kumar AV, Fernandez LR, Chen MH. Expanding the Phenotypic Spectrum of Acrofacial Dysostosis Rodriguez Type: Three New Cases. Am J Med Genet A. 2020.
Schmidt PT, Anderson NJ, Dubois F. Skeletal Manifestations in Rare Craniofacial Dysostosis Syndromes: A Comprehensive Review. Clin Genet. 2019.
Patel SM, Liu H, Rodriguez VQ. Long-term Outcomes in Acrofacial Dysostosis: A Multicenter Retrospective Study. J Pediatr. 2023.
Medication Comparisons
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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