Primary care
Recommendation 1
Specialist referrals and therapy
Pentasomy X
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Non-inherited disorder of sex chromosome anomaly caused by the presence of three extra X chromosomes in females.
Common symptoms
Hypotonialow-setposteriorly rotated earscamptodactyly of digitshypertelorismdevelopmental delayintellectual disability
When to suspect
Recommendation 1
Cytogenetics studies/karotype
How to test
Recommendation 1
Cytogenetics studies/karotype
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Supportive Treament Only
Further support
Recommendation 1
No specific physicians specialize 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
Clinical Trials
Sources
No data available
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