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 auditory evoked potentials||-|
|Abnormal peripheral myelination||-|
|Abnormality of skin pigmentation||-|
|Abnormality of the hair||-|
|Abnormality of the pinna||-|
|Abnormality of visual evoked potentials||-|
|Atypical scarring of skin||-|
|Autosomal recessive inheritance||-|
|Basal ganglia calcification||-|
|Decreased nerve conduction velocity||-|
|Delayed eruption of primary teeth||-|
|Hypoplasia of teeth||-|
|Hypoplasia of the iris||-|
|Hypoplastic iliac wing||-|
|Increased cellular sensitivity to UV light||-|
|Intrauterine growth retardation||-|
|Ivory epiphyses of the phalanges of the hand||-|
|Limitation of joint mobility||-|
|Loss of facial adipose tissue||-|
|Normal pressure hydrocephalus||-|
|Opacification of the corneal stroma||-|
|Patchy demyelination of subcortical white matter||-|
|Postnatal growth retardation||-|
|Progeroid facial appearance||-|
|Reduced subcutaneous adipose tissue||-|
|Sensorineural hearing impairment||-|
|Severe failure to thrive||-|
|Severe short stature||-|
|Small for gestational age||-|
|Square pelvis bone||-|
|Subcortical white matter calcifications||-|
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.
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.
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion
Thursday, May 28, 2009 -
Saturday, May 30, 2009
Location: Hilton Anatole, Dallas, TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
Contact: Dr. Frank Evans, NHLBI301-402-2647
Co-funding Institute(s): National Heart, Lung, and Blood Institute
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