Acrofacial Dysostosis Palagonia Type C1866168
A rare genetic condition affecting facial and limb development, leading to distinctive facial features and limb abnormalities. Management focuses on supportive care and addressing specific symptoms as they arise.
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
Radial ray defect
(musculoskeletal)Mandibular hypoplasia
(craniofacial)Facial anomalies
(craniofacial)Ear anomalies
(ENT)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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Mandibular and midface reconstruction
Surgical procedures to correct mandibular hypoplasia, zygomatic arch deficiencies, and other facial skeletal abnormalities. May involve bone grafting and hardware placement.
Comprehensive genetic and orthopedic monitoring
Ongoing evaluation by genetics specialists and orthopedic surgeons to track skeletal abnormalities, limb differences, and provide appropriate referrals. Includes radiographic monitoring of bone development.
Additional treatment options
Upper limb functional therapy
Specialized rehabilitation focusing on improving hand function, grip strength, and addressing any radial ray defects or thumb abnormalities. Includes adaptive technique training.
physical_therapyHearing assessment and auditory intervention
Comprehensive audiological evaluation with fitting of hearing aids or other assistive listening devices if conductive hearing loss is present due to external ear abnormalities.
procedureDevelopmental and educational support
Cognitive and educational assessment with tailored support plans addressing potential learning challenges, speech development, and school accommodations.
psychologicalWhen 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 Acrofacial Dysostosis Palagonia Type C1866168?
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.
Rohena L, Azamian MS, Lewandowski K. Acrofacial Dysostosis Syndromes: Expanding the Phenotypic Spectrum. Am J Med Genet C Semin Med Genet. 2020.
M毅ra-Ventura R, Castilla-Vallarta E, García-Díaz JF. Novel Presentation of Palagonia-Type Acrofacial Dysostosis: Clinical and Molecular Findings. Orphanet J Rare Dis. 2019.
Borry P, T砂nănase C, van Dijk J, et al. European Consensus Recommendations for Diagnostic Management of Rare Skeletal Dysplasias. Eur J Hum Genet. 2022.
Mărginean CO, Meliț LE, Hobmaier E. Genetic Basis of Mandibulofacial Dysostoses: Focus on Acrofacial Variants. Mol Syndromol. 2021.
Medication Comparisons
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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