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 | ||
| Chronic diarrhea | 0002028 | |
| 1%-4% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| Chronic lung disease | 0006528 | |
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| Decreased circulating IgA level | 0002720 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Feeding difficulties in infancy | 0008872 | |
| Frontal bossing | 0002007 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hallux valgus |
Bunion
|
0001822 |
| Hashimoto thyroiditis | 0000872 | |
| Hepatitis |
Liver inflammation
|
0012115 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypersplenism | 0001971 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Increased vertebral height | 0004570 | |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
| Low hanging columella | 0009765 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
| Motor delay | 0001270 | |
| Pancytopenia |
Low blood cell count
|
0001876 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Portal |
0001409 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
|
Drooping upper eyelid
|
0000508 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Reduced forced expiratory volume in one second | 0032342 | |
| Relative macrocephaly |
Relatively large head
|
0004482 |
| Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
| Short philtrum | 0000322 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Single transverse palmar crease | 0000954 | |
| Slender long bone |
Long bones slender
Thin long bones
[ more ]
|
0003100 |
| Thoracic kyphoscoliosis | 0005659 | |
| Type I |
Type 1 diabetes
Type I diabetes
[ more ]
|
0100651 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ]
|
0000269 |
| Splenomegaly |
Increased spleen size
|
0001744 |
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.
