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)|
|Autosomal dominant inheritance||-|
|Delayed eruption of teeth||-|
|Depressed nasal bridge||-|
|Hypoplasia of dental enamel||-|
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.
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.
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I was diagnosed in my teens with pseudopseudohypoparathyroidism. I am now an adult. My question is: Is abnormal pain a symptom of this condition? I have had pain all through my body for as long I can remember, but it has gotten much worse over the past few years. I receive physical therapy and medication, but the pain is still there. The pain is along my spine and shoulders and arms and legs and head. The pain gets so bad that I get stabbing headaches and feel faint. See answer