Orpha Number: 1787
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
|Abnormal vertebral morphology||0003468|
|Aplasia cutis congenita||0001057|
|Cleft upper lip||
Webbed skin of fingers[ more ]
|Hypoplasia of the odontoid process||0003311|
Failure of development of more than six teeth
Flattened and twisted hair
Protruding forehead[ more ]
|Short 4th metacarpal||
Shortened 4th long bone of hand
Decreased body height
Small stature[ more ]
|Spina bifida occulta at S1||0004614|
One sided cleft upper lip
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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.