Orpha Number: 2662
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 |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Aplasia/Hypoplasia of the distal phalanges of the toes |
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe
[ more ]
|
0010185 |
| Broad distal phalanx of finger |
Broad outermost finger bone
|
0009836 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ]
|
0010059 |
| Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Sensorineural hearing impairment | 0000407 | |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short hallux |
Short big toe
|
0010109 |
| 30%-79% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Aplastic/hypoplastic toenail |
Absent/small toenails
Absent/underdeveloped toenails
[ more ]
|
0010624 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Exaggerated cupid's bow |
Cupid bow upper lip
Cupid-bow shaped upper lip
Prominent cupid-bow of upper lip
[ more ]
|
0002263 |
| Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
|
Drooping upper eyelid
|
0000508 | |
| Tented upper lip vermilion | 0010804 | |
| 5%-29% of people have these symptoms | ||
| Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the nail | 0001597 | |
| 0000006 | ||
| Broad hallux |
Broad big toe
Wide big toe
[ more ]
|
0010055 |
| Enlarged epiphyses |
Large end part of bone
|
0010580 |
| Frontal bossing | 0002007 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Low hanging columella | 0009765 | |
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| Rounded epiphyses |
Rounded end part of bone
|
0006026 |
| Short 3rd metacarpal |
Shortened 3rd long bone of hand
|
0010041 |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
| Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ]
|
0000215 |
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.
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.
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.
