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)|
|Specific learning disability||Occasional
(present in 5%-29% of cases)
|Antegonial notching of mandible||-|
|Bidirectional ventricular ectopy||-|
|Clinodactyly of the 5th finger||-|
|Clinodactyly of the 5th toe||-|
|Delayed eruption of permanent teeth||-|
|Delayed skeletal maturation||-|
|Hypoplasia of dental enamel||-|
|Hypoplasia of the maxilla||-|
|Periodic hypokalemic paresis||-|
|Persistence of primary teeth||-|
|Prolonged QT interval||-|
|Prominent frontal sinuses||-|
|Prominent U wave||-|
|Short mandibular rami||-|
|Short palpebral fissure||-|
|Short phalanx of finger||-|
|Slender long bone||-|
1. Two of the following three criteria:
2. One of the above three criteria in addition to at least one other family member who meets two of the three criteria.The presence of a
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.