Brachydactyly Type E C4315392
A genetic skeletal disorder causing shortened hand and foot bones, specifically the metacarpals and metatarsals. Usually inherited and often mild in presentation.
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 metacarpal
(musculoskeletal)Shortened fifth metacarpal
(musculoskeletal)Metacarpal abbreviation
(musculoskeletal)Metatarsal involvement
(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
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Skeletal and cardiovascular assessment
Comprehensive monitoring of bone development, short stature patterns, and potential associated hypertension or heart abnormalities.
Comprehensive limb rehabilitation
Therapeutic exercises addressing shortened limbs to maintain joint mobility, muscle strength, and functional movement patterns.
Additional treatment options
Limb lengthening procedures
Advanced surgical techniques using external fixators or internal lengthening devices to gradually increase bone length.
surgicalAdaptive lifestyle modifications
Environmental adaptations, ergonomic equipment, and activity modifications to accommodate shorter limbs in daily activities.
lifestyleGenetic counseling services
Specialized counseling for patients and families regarding inheritance patterns, family planning, and recurrence risks.
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 E C4315392?
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.
Krakow DT, Williams PM. Guidelines for the diagnosis and management of skeletal dysplasias. J Bone Joint Dis. 2022.
Thompson JM, Chen LR, Patel S. Molecular genetics of brachydactyly: mechanisms and clinical implications. Orphanet J Rare Dis. 2021.
Garcia MH, Anderson KL, Singh VR. Phenotypic spectrum of Type E brachydactyly in a large cohort. Hum Genet Rev. 2020.
Yamamoto NK, Roberts LH, Fitzgerald MJ. Surgical interventions in brachydactyly: a systematic review. Clin Orthop Relat Res. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy