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)|
|Flat acetabular roof||-|
|Generalized bronze hyperpigmentation||-|
|Hypoplasia of the odontoid process||-|
|Increased circulating cortisol level||-|
|Intellectual disability, progressive||-|
|Intellectual disability, severe||-|
|Irregular acetabular roof||-|
|Irregular sclerotic endplates||-|
|Joint swelling onset late infancy||-|
|Marked delay in bone age||-|
|Ovoid thoracolumbar vertebrae||-|
|Palmoplantar cutis laxa||-|
|Short long bone||-|
|Small cervical vertebral bodies||-|
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.