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.
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.
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.
Workshop on Universal Reporting Parameters for the Speech of Individuals with Cleft Palate Friday, April 30, 2004 -
Sunday, May 2, 2004
Description: The goals of this conference were to adopt a universal reporting system including evaluation procedures, parameters of the system, guidelines in description of speech, speech sampling, use of scales and scoring, and data management and mapping and to identify a research agenda.
Contact: Dr. Lana Shekim(301) 496-5061
Co-funding Institute(s): National Institute on Deafness and Other Communication Disorders