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 nasopharynx||-|
|Aplasia/Hypoplasia of the pubic bone||-|
|Atrial septal defect||-|
|Autosomal dominant inheritance||-|
|Coarse facial features||-|
|Depressed nasal bridge||-|
|Failure to thrive||-|
|Hypoplasia of first ribs||-|
|Hypoplasia of the corpus callosum||-|
|Hypoplastic labia majora||-|
|Hypoplastic labia minora||-|
|Increased density of long bones||-|
|Metopic suture patent to nasal root||-|
|Postaxial hand polydactyly||-|
|Postnatal growth retardation||-|
|Sclerosis of skull base||-|
|Short 1st metacarpal||-|
|Short distal phalanx of finger||-|
|Single transverse palmar crease||-|
|Thickened cortex of long bones||-|
|Wide distal femoral metaphysis||-|
|Widely patent fontanelles and sutures||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
My daughter is one month old and has been diagnosed with Schinzel-Giedion syndrome. Since this is rare and not many cases have been found we are limited to information. I would like to know where to find any and all information on this syndrome to better care for my daughter. Thank you. See answer