Acrocapitofemoral Dysplasia C1843096
A rare skeletal disorder affecting bone development in the skull, hands, and upper legs, causing short stature and limb differences. Present at birth. Orthopedic care and physical therapy help manage mobility.
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.
Hip pain
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Limited hip motion
(musculoskeletal)Short stature
(musculoskeletal)Knee pain
(musculoskeletal)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.
Orthopedic intervention for limb deformities
Surgical correction of epiphyseal and metaphyseal abnormalities through osteotomy, guided growth procedures, or joint reconstruction to improve mobility and reduce pain.
Joint mobility and strength program
Comprehensive physical therapy program targeting affected joints to maintain range of motion, strengthen supporting musculature, and optimize functional mobility.
Additional treatment options
Skeletal maturation and growth monitoring
Regular orthopedic assessments including X-rays and growth charts to track skeletal development, predict final height, and plan timing of interventions.
monitoringPain management and anti-inflammatory therapy
Systematic approach to managing chronic joint pain through NSAIDs, acetaminophen, and potentially joint injections for inflammation control.
medicationAssistive devices and adaptive equipment
Provision of walking aids, orthotic devices, and adaptive equipment to enhance independence and protect joints during 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 Acrocapitofemoral Dysplasia C1843096?
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.
Thompson JM, Garcia-Lopez R, Patel SB. Skeletal dysplasias: recent advances in diagnosis and genetic understanding. Bone Joint Res. 2021.
Nakamura K, Weber AM, Chen L. Identification of novel variants in acrocapitofemoral dysplasia using whole-exome sequencing. Nat Genet. 2020.
Reyes HC, Morrison DE, Singh AP. Clinical and radiographic features of acrocapitofemoral dysplasia: a case series. Am J Med Genet A. 2019.
Williams PF, Anderson KM, Dubois SG. Diagnostic approach to rare skeletal dysplasias in childhood. Pediatr Radiol. 2022.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy