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) |
| Cleft palate | Very frequent (present in 80%-99% of cases) |
| Cognitive impairment | Very frequent (present in 80%-99% of cases) |
| Hypohidrosis | Very frequent (present in 80%-99% of cases) |
| Lacrimation abnormality | Very frequent (present in 80%-99% of cases) |
| Limitation of joint mobility | Very frequent (present in 80%-99% of cases) |
| Non-midline cleft lip | Very frequent (present in 80%-99% of cases) |
| Congenital contracture | - |
| Ectodermal dysplasia | - |
| Growth delay | - |
| Oral cleft | - |
| X-linked inheritance | - |
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.
Genetic Analysis of Limb Malformation Disorders
Bamshad Laboratory
University of Washington SOM
Department of Pediatrics
Division of Genetics & Developmental Medicine
1959 NE Pacific St. HSB RR349 B
Seattle, WA 98195-6320 USA
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.
Workshop on Universal Reporting Parameters for the Speech of Individuals with Cleft Palate Friday, April 30, 2004 -
Sunday, May 2, 2004
Location:
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
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