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)|
|Abnormal form of the vertebral bodies||90%|
|Asymmetry of the thorax||90%|
|Decreased body weight||90%|
|Lower limb asymmetry||90%|
|Macrodactyly of finger||90%|
|Skeletal muscle atrophy||90%|
|Abnormality of dental enamel||7.5%|
|Abnormality of immune system physiology||7.5%|
|Abnormality of retinal pigmentation||7.5%|
|Abnormality of the hip bone||7.5%|
|Abnormality of the nail||7.5%|
|Abnormality of the neck||7.5%|
|Abnormality of the wrist||7.5%|
|Atresia of the external auditory canal||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Depressed nasal bridge||7.5%|
|Limitation of joint mobility||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Neoplasm of the lung||7.5%|
|Neoplasm of the thymus||7.5%|
|Reduced number of teeth||7.5%|
|Sudden cardiac death||7.5%|
|Deep venous thrombosis||-|
|Depigmentation/hyperpigmentation of skin||-|
|Hypertrophy of skin of soles||-|
|Intellectual disability, moderate||-|
|Spinal canal stenosis||-|
|Spinal cord compression||-|
|Thin bony cortex||-|
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.
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.
David W. Smith Workshop on Malformations and Morphogenesis
Friday, September 9, 2011 -
Wednesday, September 14, 2011
Location: UCLA Lake Arrowhead Conference Center, Lake Arrowhead , CA
Description: Themes for 2011; Mechanisms of normal and abnormal morphogenesis including insights from prenatal imaging; Somatic overgrowth; Brain overgrowth; Cortical dysplasia; Signaling pathways in morphogenesis; Angiogenesis and vascular malformations in genetic syndromes
Contact: Mary Lou Oster-Granite, Ph.D.(301) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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