Exostoses Anetodermia Brachydactyly Type E Syndrome C1851428
A rare genetic syndrome with bone growths, skin elasticity problems, and shortened fingers. Care is supportive and symptom-focused.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Multiple exostoses
(musculoskeletal)Short digits (brachydactyly)
(musculoskeletal)Skin laxity (anetodermia)
(musculoskeletal)Joint contractures
(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
Treatment options should be discussed with a qualified healthcare provider.
Surgical excision of symptomatic exostoses
Removal of painful or function-impairing bony growths when they cause mechanical obstruction, nerve compression, or cosmetic concerns. Surgery is typically reserved for symptomatic lesions.
Regular orthopedic surveillance
Periodic clinical examination and imaging to monitor exostosis growth, detect malignant transformation, and assess skeletal abnormalities including brachydactyly progression.
Additional treatment options
Hand function rehabilitation
Targeted exercises and occupational therapy to improve grip strength, finger dexterity, and compensate for brachydactyly-related limitations in fine motor skills.
physical_therapyPain management
Analgesic medications including NSAIDs for managing discomfort associated with exostoses. Treatment is tailored to pain severity and patient comorbidities.
medicationPsychosocial support and counseling
Addressing body image concerns, functional limitations, and potential social anxiety related to visible skeletal abnormalities and skin manifestations of anetodermia.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Exostoses Anetodermia Brachydactyly Type E Syndrome C1851428?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy