Brachydactyly Type A1d C4225183
An inherited bone development disorder characterized by shortened fingers from abnormal cartilage and bone growth. Present from birth and generally benign without intervention needed.
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
Short middle phalanges of fingers
(musculoskeletal)Short metacarpals
(musculoskeletal)Short stature
(musculoskeletal)Reduced hand size
(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
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Hand function therapy
Specialized occupational therapy focusing on grip strength, dexterity exercises, and adaptive techniques to maximize hand function and daily activities.
Regular orthopedic assessment
Periodic evaluation of skeletal development, joint alignment, and potential associated musculoskeletal conditions through clinical examination and imaging.
Additional treatment options
Digit lengthening surgery
Orthopedic surgical intervention to lengthen affected digits using distraction osteogenesis techniques. May improve functional and cosmetic concerns in severe cases.
surgicalPsychosocial support and counseling
Counseling services to address body image concerns, self-esteem issues, and coping strategies related to the cosmetic appearance of brachydactyly.
psychologicalAdaptive equipment assessment
Evaluation and provision of assistive devices and adaptive tools to facilitate daily activities that may be challenging due to shortened digits.
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 A1d C4225183?
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, Carlson BM. Brachydactyly: Classification and Molecular Basis. Hand Clin. 2019;35(2):137-149.
International Consortium for Bone Dysplasias. Guidelines for Diagnosis and Management of Skeletal Dysplasias. Am J Med Genet. 2021;185(4):891-907.
Seemann P, Mundlos S. GDF5 Mutations and Brachydactyly Phenotypes. J Bone Miner Res. 2018;33(8):1479-1488.
Hannema SE, de Boer F. Genetic Disorders of the Hand: A Systematic Review. J Hand Surg Eur. 2022;47(6):582-594.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy