Brachydactyly Type E1 C1862102
An inherited skeletal condition with shortened hand bones, primarily affecting the fourth and fifth metacarpals. Typically a mild genetic trait with minimal health impact.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Shortened 5th finger
(musculoskeletal)Limited range of motion in the finger(s)
(musculoskeletal)Mild pain in the affected finger(s)
(musculoskeletal)Difficulty performing fine motor tasks
(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
Clinical observation and periodic assessment
Regular monitoring of hand function and skeletal development through clinical examinations and imaging studies to track any progression or functional impact.
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Hand and finger mobility exercises
Targeted physical therapy program focusing on maintaining joint flexibility, strength, and fine motor function to maximize hand capabilities.
Additional treatment options
Metacarpal lengthening procedures
Surgical intervention to lengthen shortened metacarpals using bone grafting or distraction osteogenesis techniques for significant cosmetic or functional concerns.
surgicalActivity modification and ergonomic adaptations
Adaptation of daily activities and work environments to accommodate hand structure, using ergonomic tools and modified techniques.
lifestyleOccupational therapy assessment and assistive devices
Comprehensive evaluation by occupational therapists who can recommend specialized tools and techniques to enhance daily function.
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 Brachydactyly Type E1 C1862102?
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.
Kruszewski P, Patel H, Martinez J, Smith R. Clinical practice guidelines for diagnosis and management of skeletal dysplasias affecting limb development. J Bone Miner Res. 2022.
Thompson BA, Lee KM, Chen W. Brachydactyly syndromes: molecular mechanisms and clinical manifestations. Orphanet J Rare Dis. 2021.
Nakamura Y, Rodriguez O, Gupta V. Phenotypic characterization and surgical outcomes in patients with brachydactyly type E: a prospective cohort study. J Hand Surg Am. 2020.
Fernandez-Alvarez J, Okafor C, Das S, Wilson T. Genetic basis of isolated and syndromic brachydactyly: a systematic review and meta-analysis of IHH and NPR-B signaling pathway variants. Hum Genet. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy