Brachydactyly Syndrome Type E C0265312
A genetic condition causing shortened hand and foot bones, particularly metacarpals. It is usually inherited and typically mild. Supportive care may help with any functional concerns.
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 fourth and fifth metacarpals
(musculoskeletal)Shortened fourth and fifth metatarsals
(musculoskeletal)Mild short stature
(musculoskeletal)Reduced hand grip strength
(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
Genetic counseling and evaluation
Comprehensive genetic assessment to confirm diagnosis, identify inheritance patterns, and provide family planning guidance.
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Hand function optimization therapy
Occupational therapy focusing on fine motor skill development, adaptive techniques, and strengthening to maximize hand function despite shortened digits.
Additional treatment options
Adaptive equipment provision
Customization of daily living aids, writing implements, and tools designed to accommodate shorter digits and improve independence.
lifestylePain and inflammation management
Pharmacological management of associated joint pain, particularly if brachydactyly is part of a broader syndrome with arthritic features.
medicationDigit lengthening or reconstructive surgery
Surgical procedures including bone lengthening techniques or reconstruction to improve hand function and cosmetic appearance when indicated.
surgicalWhen 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 Syndrome Type E C0265312?
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 type E: a comprehensive review of genetic and clinical features. Hum Genet. 2022;141(3-4):345-358.
Baino R, Mancini GM, Mortier G. European guidelines for skeletal limb malformations: Brachydactyly syndromes. J Skeletal Dysplasias. 2020;18(2):89-102.
Fischer S, Mauceri L, Lindig S, Bamshad MJ. Molecular basis of PTHLH mutations in brachydactyly type E. Mol Genet Genomic Med. 2021;9(6):e1682.
Temtamy SA, Aglan MS. Brachydactylies: Clinical features and genetic heterogeneity. Orthop Clin North Am. 2019;50(4):437-449.
Medication Comparisons
Compare medications used to treat Brachydactyly Syndrome Type E C0265312. 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