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 form of the vertebral bodies||90%|
|Abnormality of the metacarpal bones||90%|
|Delayed skeletal maturation||90%|
|Low-set, posteriorly rotated ears||90%|
|Vertebral segmentation defect||90%|
|Abnormality of bone mineral density||50%|
|Abnormality of the hip bone||50%|
|Abnormality of the ureter||50%|
|Congenital diaphragmatic hernia||50%|
|Limitation of joint mobility||50%|
|Thin vermilion border||50%|
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