12q14 microdeletion syndrome

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

Disease overview

Autosomal dominant disorder caused by deletion of a piece of chromosome 12 causing learning and physical development deficits.

Common symptoms

Intellectual deficitfailure to thriveshort stature and osteopoikilosislow birth weight

WHEN TO SUSPECT

  • Recommendation 1

    Diagnosed through chromosomal microarray or whole exome sequencing

HOW TO TEST

  • Recommendation 1

    Diagnosed through chromosomal microarray or whole exome sequencing

TREATMENT

  • Recommendation 1

    Supportive Treatment Only

PRIMARY CARE

  • Recommendation 1

    Surgery for internal physical defects and therapy for behavioral concerns

FURTHER SUPPORT

  • Recommendation 1

    No specific phsician is specializing in this condition, NORD recommends various Centers for Rare Diseases. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

Interested in learning more about 12q14 microdeletion syndrome?

Follow to receive regular updates to the latest research development on this disease via email newsletter.