The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of chromosome segregation||90%|
|Clinodactyly of the 5th finger||50%|
|Abnormality of the hip bone||7.5%|
|Attention deficit hyperactivity disorder||7.5%|
|Multicystic kidney dysplasia||7.5%|
|Upslanted palpebral fissure||7.5%|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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Hello my daughter has trisomy x and so far is doing well except for a being significantly underweight. Is there a correlation with difficulty to gain weight and trisomy x? See answer
My elementary school-aged granddaughter was recently diagnosed with 47 XXX syndrome. In addition, she has Attention deficit hyperactivity disorder (ADHD). I was wondering what the possible relationship might be, if any, between ADHD and the behavior problems associated with 47 XXX syndrome. Is it possible that her behavioral concerns are resulting from her chromosome abnormality and not ADHD? See answer
I was wondering if there is a treatment or if there are any in development. Also, is there still research being done about triple X? Are there any tests that need to be done besides a blood test? Are there any physical or mental characteristics associated with the disorder? See answer
Does 47 XXX syndrome affect fertility? What are the chances for a woman with 47 XXX syndrome to have a child with the same condition? See answer