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 nasal morphology||90%|
|Aplasia/Hypoplasia affecting the eye||90%|
|Aplasia/Hypoplasia of the cerebellum||90%|
|Camptodactyly of finger||90%|
|Cerebral cortical atrophy||90%|
|Everted lower lip vermilion||90%|
|Limitation of joint mobility||90%|
|Prominent metopic ridge||90%|
|Thin vermilion border||90%|
|Wide nasal bridge||90%|
|Abnormality of immune system physiology||50%|
|Abnormality of the genital system||50%|
|Intrauterine growth retardation||50%|
|Abnormality of retinal pigmentation||7.5%|
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.
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.
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.
Third Genome Dynamics in the Neurosciences Conference Sunday, July 18, 2010 -
Thursday, July 22, 2010
Location: The Hilton Metropole, Brighton, England
Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.
Contact: Dr. Danilo A. Tagle, NINDS(301) email@example.com
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, 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
My granddaughter is 6-months-old and has microcephaly. The geneticist said there is a slight possibility she has COFS syndrome. Can you please give us more information? See answer