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 movement||90%|
|Hypoplasia of penis||50%|
|Autosomal recessive inheritance||-|
|Diffuse mesangial sclerosis||-|
|Hypoplasia of the ciliary body||-|
|Hypoplasia of the iris||-|
|Stage 5 chronic kidney disease||-|
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
In 2008 my daughter was pregnant and in the last trimester the fetus was diagnosed with Pierson syndrome. Labor was induced at 8 months and the baby died at birth. She got pregnant again and in the 5th month the fetus was diagnosed with the same problem. Can she do in vitro fertilization and select or work on the gene to have a normal boy? See answer
My 5-month-old son has Pierson syndrome. He has renal failure and pin-point pupils and now is treated by peritoneal dialysis. I would like to ask about the prognosis and the serious complications associated with this disease. See answer