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 | Learn More: HPO ID |
---|---|---|
5%-29% of people have these symptoms | ||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
Brachycephaly |
Short and broad skull
|
0000248 |
Cerebellar vermis hypoplasia | 0001320 | |
Dilation of lateral ventricles | 0006956 | |
Hepatic fibrosis | 0001395 | |
Intestinal malrotation | 0002566 | |
Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ]
|
0000171 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Pancreatic fibrosis | 0100732 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
1%-4% of people have these symptoms | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Motor delay | 0001270 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
Tricuspid regurgitation | 0005180 | |
Percent of people who have these symptoms is not available through HPO | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
0000007 | ||
Short fingers or toes
|
0001156 | |
Cleft roof of mouth
|
0000175 | |
Digenic inheritance | 0010984 | |
Disproportionate shortening of the tibia |
Disproportionate shortening of the shankbone
Disproportionate shortening of the shinbone
[ more ]
|
0005766 |
Hamartoma of tongue | 0011802 | |
Horizontal ribs | 0000888 | |
Hydrops fetalis | 0001789 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Hypoplasia of the epiglottis | 0005349 | |
Lateral clavicle hook |
Hook-shaped collarbone
|
0000895 |
Median |
Central cleft upper lip
|
0000161 |
Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Polycystic kidney dysplasia | 0000113 | |
Polysyndactyly of hallux | 0005873 | |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
Postaxial polysyndactyly of foot | 0005817 | |
Preaxial hand polydactyly |
Extra thumb
|
0001177 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
Short ribs | 0000773 | |
Thoracic dysplasia | 0006644 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.