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 pinna||-|
|Aplasia/Hypoplasia of the eyebrow||-|
|Atrial septal defect||-|
|Autosomal recessive inheritance||-|
|Congenital pseudoarthrosis of the clavicle||-|
|Decreased calvarial ossification||-|
|Decreased fetal movement||-|
|Increased anterioposterior diameter of thorax||-|
|Intrauterine growth retardation||-|
|Narrow nasal ridge||-|
|Overtubulated long bones||-|
|Patent ductus arteriosus||-|
|Premature rupture of membranes||-|
|Prominent superficial blood vessels||-|
|Rocker bottom foot||-|
|Short palpebral fissure||-|
|Short umbilical cord||-|
|Submucous cleft hard palate||-|
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.
Gordon Research Conference – Intermediate Filaments
Saturday, June 14, 2014 -
Friday, June 20, 2014
Location: Mount Snow Resort, West Dover, VT
The 2014 GRC-Intermediate Filaments will include short talks, discussions, and poster presentations from the leaders in the field. It will provides several functional perspectives with an emphasis on the paradigm shifting notion that IFs are not only structural proteins but also play essential roles as signaling organizers and buffers of cellular stress, which contribute to number of disease pathologies. There will be robust discussions on how mutations in the IF genes encoding these IF proteins are responsible for rare diseases, such as epidermolysis bullosa simplex (EBS), but extending into the entire list of rare diseases outlined above. Discussions will be focused on how cell biology and physiology efforts are providing unique therapeutic approaches to the highly complex disorders, such as those caused by lamin A/C gene mutations, which are involved in Progeria.
Contact: Carl C. Baker, M.D., Ph.D.,(301) 594-5017,firstname.lastname@example.org
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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