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Exostoses Anetodermia Brachydactyly Type E Syndrome C1851428

Published: July 22, 2026Updated: August 27, 2026

A rare genetic syndrome with bone growths, skin elasticity problems, and shortened fingers. Care is supportive and symptom-focused.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 27, 2026Editorial policy

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

1

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

1

Dietary counseling and physical activity plan

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

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.

surgical
3

Regular orthopedic surveillance

Periodic clinical examination and imaging to monitor exostosis growth, detect malignant transformation, and assess skeletal abnormalities including brachydactyly progression.

monitoring

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_therapy

Pain management

Analgesic medications including NSAIDs for managing discomfort associated with exostoses. Treatment is tailored to pain severity and patient comorbidities.

medication

Psychosocial support and counseling

Addressing body image concerns, functional limitations, and potential social anxiety related to visible skeletal abnormalities and skin manifestations of anetodermia.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

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.]

general

Medication Comparisons

Compare medications used to treat Exostoses Anetodermia Brachydactyly Type E Syndrome C1851428. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy