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 hip bone||90%|
|Abnormality of the metaphyses||90%|
|Coarse facial features||90%|
|Low anterior hairline||90%|
|Low posterior hairline||90%|
|Thick lower lip vermilion||90%|
|Abnormality of the ribs||50%|
|Abnormality of the shoulder||50%|
|Deep plantar creases||50%|
|Delayed skeletal maturation||50%|
|Patent ductus arteriosus||50%|
|Preaxial foot polydactyly||50%|
|Prominent supraorbital ridges||50%|
|Reduced bone mineral density||50%|
|Short distal phalanx of finger||50%|
|Abnormality of the heart valves||7.5%|
|Accelerated skeletal maturation||7.5%|
|Autosomal dominant inheritance||-|
|Bicuspid aortic valve||-|
|Broad first metatarsal||-|
|Congenital hypertrophy of left ventricle||-|
|Congenital, generalized hypertrichosis||-|
|Cuboid-shaped vertebral bodies||-|
|Depressed nasal bridge||-|
|Erlenmeyer flask deformity of the femurs||-|
|Hypoplastic ischiopubic rami||-|
|Intellectual disability, mild||-|
|Large for gestational age||-|
|Large sella turcica||-|
|Ovoid vertebral bodies||-|
|Thick upper lip vermilion||-|
|Wide nasal bridge||-|
|Widened posterior fossa||-|
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.
The 11th Annual North American Genetic Analysis of ABC Transporters Workshop
Wednesday, September 24, 2014 -
Thursday, September 25, 2014
Location: NCI-Frederick, Frederick, MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Contact: Dr. Michael Dean,(301) 846-5931,firstname.lastname@example.org
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research