Acromesomelic Dysplasia

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

Progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism

Common symptoms

Unusually short forearms and lower legs and short stature [ ]

WHEN TO SUSPECT

  • Recommendation 1

    Clinical evaluation, detailed patient history, identification of characteristic findings, and imaging to detect premature fusion of long bones

HOW TO TEST

  • Recommendation 1

    Clinical evaluation, detailed patient history, identification of characteristic findings, and imaging to detect premature fusion of long bones

TREATMENT

  • Recommendation 1

    Symptomatic and supportive

PRIMARY CARE

  • Recommendation 1

    Symptomatic and supportive

FURTHER SUPPORT

  • Recommendation 1

    ~ 700 physicians globally . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    1 recruiting

Sources

No data available

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