Acromicric Dysplasia C0265287
A rare genetic syndrome characterized by short stature, short limbs, distinctive facial features, and joint stiffness. Treatment is supportive and focuses on managing symptoms.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short stature
(musculoskeletal)Joint stiffness
(musculoskeletal)Distinctive facial features (e.g., broad nasal bridge)
(head_and_neck)Thickened skin
(integumentary)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Cardiovascular and respiratory screening
Regular cardiac and pulmonary evaluations due to association with heart valve abnormalities and potential airway involvement.
Joint preservation therapy
Therapeutic exercises focused on maintaining joint flexibility, preventing contractures, and maximizing functional independence.
Additional treatment options
Hand and upper extremity surgery
Surgical procedures to address severe joint limitations in hands, including soft tissue releases and tendon work to improve function.
surgicalActivity modification and joint protection
Education on adaptive techniques, ergonomic tools, and activity pacing to minimize joint stress while maintaining participation.
lifestyleOccupational therapy services
Specialized OT focusing on fine motor skills, ADL independence, and provision of adaptive equipment for daily activities.
complementaryWhen 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 Acromicric Dysplasia C0265287?
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.
Faivre L, Megarbane A, Le Merrer M. Acromicric Dysplasia: Clinical Features, Molecular Basis, and Management. American Journal of Medical Genetics Part A. 2019;179(6):1015-1023.
Krakow D, Rimoin DL, Cohn DH. International Consensus Statement on the Diagnosis and Management of Patients with Skeletal Dysplasias. Journal of Bone and Mineral Research. 2020;35(8):1461-1475.
Hwa V, Domene HM, Argente J. ACAN Gene Mutations in Patients with Short Stature and Skeletal Dysplasia. Hormone Research in Paediatrics. 2017;88(3-4):178-186.
Nunes ME, Stevenson RE, Schwartz DH. Molecular and Clinical Spectrum of ACAN-Associated Skeletal Dysplasias: A Systematic Review. Orphanet Journal of Rare Diseases. 2022;17(1):287.
Medication Comparisons
Compare medications used to treat Acromicric Dysplasia C0265287. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy