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 chromosome segregation||90%|
|Abnormality of the teeth||50%|
|Aplasia/Hypoplasia of the iris||7.5%|
|Camptodactyly of toe||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Opacification of the corneal stroma||7.5%|
|Ventricular septal defect||7.5%|
|Wide nasal bridge||7.5%|
|Multiple palmar creases||2/4|
|Low posterior hairline||1/4|
|Wide nasal bridge||1/4|
|Autosomal dominant inheritance||-|
|Short palpebral fissure||-|
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.
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 son was recently diagnosed with this disorder. His whole life he has been sick with ear infections, sinus infections and/or pneumonia. He is only 17 years old and has had pneumonia 8 times. In March they did blood work that indicated low levels in his immunoglobulin. Is having immune problems a characteristic of this condition? See answer
I just found out my granddaughter has this. I would like information on what exactly this is, and what happens with this condition. See answer