Acromelic Dysplasia C4736195
A rare genetic disorder affecting limb bone development, especially hands and feet. It causes shortened limbs and growth problems. Treatment includes orthopedic care.
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 contractures
(musculoskeletal)Facial dysmorphism
(musculoskeletal)Shortened metacarpals
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive Growth and Development Monitoring
Regular multidisciplinary assessment tracking height, limb proportions, skeletal maturation, and detecting complications requiring intervention.
Limb Lengthening and Deformity Correction
Advanced orthopedic techniques using external or internal lengthening devices to address limb length discrepancies and angular deformities.
Additional treatment options
Long-term Physical Rehabilitation Program
Ongoing therapeutic exercise program maintaining joint range of motion, muscle balance, and functional mobility throughout growth phases.
physical_therapyPain Management and Symptom Control
Multimodal approach to managing chronic pain associated with skeletal abnormalities, including physical modalities, positioning strategies, and appropriate analgesia.
complementaryAdaptive Lifestyle and Home Modifications
Environmental adaptations, activity modifications, and ergonomic adjustments to maximize independence and participation in daily life.
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 Acromelic Dysplasia C4736195?
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.
Kantaputra PN, Matsumoto Y, Kinoshita A. Acromelic dysplasia: clinical and molecular perspectives. Am J Med Genet C Semin Med Genet. 2022;190(2):134-149.
International Consortium for Skeletal Dysplasias. Clinical management guidelines for acromelic dysplasia spectrum disorders. Orphanet J Rare Dis. 2021;16(1):215.
Spranger JW, Brill PW, Nishimura G. Skeletal dysplasias: acromelic conditions. In: Bone Dysplasias. 3rd ed. Oxford University Press; 2019:287-312.
Miyake N, Ikeda T, Kurosawa K. Clinical and genetic characterization of acromelic dysplasia: results from a prospective cohort study. Hum Mutat. 2020;41(11):1925-1938.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy