Orpha Number: 2823
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|
Broad big toe
Wide big toe[ more ]
Wide/broad thumb[ more ]
Abnormality of cognition
Mental impairment[ more ]
|Cone-shaped epiphyses of the phalanges of the hand||
Cone-shaped end part of finger bones
|Decreased body weight||
Low body weight
Weight less than 3rd percentile[ more ]
Difficulty articulating speech
|Feeding difficulties in infancy||0008872|
Increased palatal height[ more ]
Decreased breadth of face
Decreased width of face[ more ]
Flat foot[ more ]
|Progressive spastic paraplegia||0007020|
Scissors gait[ more ]
Stubby fingers[ more ]
Shortened long bone of hand
Short long bone of foot
|Short phalanx of finger||
Short finger bones
Decreased body height
Small stature[ more ]
Stubby toes[ more ]
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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