15q24 microdeletion syndrome

Not yet reviewed

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

Disease overview

Random mutation disorder caused by missing piece of genetic information chromosome 15 causing mental and physical development deficits.

Common symptoms

Mental deficits (behavior abnormalityautismintellectual deficitspeech delay) and physical deficits (developmental delayabnormal outer earbrachydactylybroad eyebrowsepicanthushypotoniajoint laxitypostnatal growth retardationshort stature)

When to suspect

  • Recommendation 1

    Oligonucleotide array CGH with confirmation by fluorescent in-situ hybridization (FISH) detects most, if not all, deletions of 15q24.

How to test

  • Recommendation 1

    Oligonucleotide array CGH with confirmation by fluorescent in-situ hybridization (FISH) detects most, if not all, deletions of 15q24.

Treatment

  • Recommendation 1

    Supportive Treatment Only

Primary care

  • Recommendation 1

    Multidisciplinary management is needed including therapy and various specialties

Further support

  • Recommendation 1

    No specific physician specializes in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Sources

No data available

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