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 the fontanelles or cranial sutures||90%|
|Abnormality of the liver||50%|
|Abnormality of the nose||50%|
|Abnormality of the palate||50%|
|Abnormality of the wrist||50%|
|Atypical scarring of skin||50%|
|Feeding difficulties in infancy||50%|
|Reduced bone mineral density||50%|
|Synostosis of joints||50%|
|Abnormality of the fibula||7.5%|
|Abnormality of the hip bone||7.5%|
|Abnormality of the humerus||7.5%|
|Abnormality of the pinna||7.5%|
|Abnormality of the shoulder||7.5%|
|Abnormality of the tibia||7.5%|
|Hernia of the abdominal wall||7.5%|
|Recurrent urinary tract infections||7.5%|
|Carotid artery tortuosity||-|
|Convex nasal ridge||-|
|Limited elbow extension||-|
|Limited knee extension||-|
|Pelvic bone exostoses||-|
|Persistent open anterior fontanelle||-|
|X-linked recessive inheritance||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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. Suggest an organization to add.
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.
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I believe I may have occipital horn syndrome. How can I be tested for this? Is it important, for personal or research purposes, that I get tested?