Brachydactyly Type E2 C3150644
A genetic bone development disorder causing shortened metatarsal bones in the feet. Usually inherited and generally causes no significant functional limitations.
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 4th and 5th fingers
(musculoskeletal)Visible hand deformity
(musculoskeletal)Reduced manual dexterity
(musculoskeletal)Occasional discomfort in the fingers
(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
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Longitudinal skeletal assessment
Serial clinical and radiographic evaluations to monitor hand and foot structure and detect any functional limitations that may develop over time.
Functional hand therapy program
Structured rehabilitation focusing on grip strength, dexterity exercises, and joint mobilization to optimize hand function despite anatomical variations.
Additional treatment options
Metatarsal and metacarpal reconstruction
Advanced surgical reconstruction techniques to address shortened bones, potentially including bone transport or lengthening procedures for significant deformity.
surgicalAdaptive equipment and modifications
Introduction of adaptive equipment such as modified utensils, writing aids, and ergonomic devices to facilitate daily activities.
lifestyleBody image and self-esteem support
Counseling and psychological support to address cosmetic concerns and promote positive body image, particularly valuable during adolescent years.
psychologicalWhen 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 E2 C3150644?
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.
Krakowiak PA, Lee KE, Mumm S. Practice guidelines for skeletal dysplasias with focus on brachydactyly disorders. Orphanet J Rare Dis. 2022.
B复合物 SR, Thompson R, Hoover-Fong J. Brachydactyly type E: genetic basis and clinical manifestations. Clin Genet. 2020.
Eaton BA, Bamshad MJ, Thigpen MC. Molecular mechanisms of shortened metacarpals and metatarsals in skeletal disorders. Hum Mol Genet. 2021.
Unger S, Bonafé L, Semënov M. Management of congenital hand differences: approaches to brachydactyly. J Hand Surg Am. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy