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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Agenesis of |
0001274 | |
| Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
| Arnold-Chiari type I malformation | 0007099 | |
| 0000007 | ||
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
|
Cleft roof of mouth
|
0000175 | |
| 0001363 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased palmar creases |
Shallow palm line
|
0006184 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Feeding difficulties in infancy | 0008872 | |
| Glabellar hemangioma | 0001076 | |
| Hand clenching |
Clenched hands
|
0001188 |
| Hydronephrosis | 0000126 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypertonia | 0001276 | |
| Hypoplastic philtrum | 0005326 | |
| Hypospadias | 0000047 | |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
| Inguinal hernia | 0000023 | |
|
Mental retardation, progressive
Progressive mental retardation
[ more ]
|
0006887 | |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Intestinal malrotation | 0002566 | |
| Joint |
0009473 | |
| Long philtrum | 0000343 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Multiple joint contractures | 0002828 | |
| Multiple small bowel atresias | 0004797 | |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Omphalocele | 0001539 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pectus excavatum |
Funnel chest
|
0000767 |
|
Drooping upper eyelid
|
0000508 | |
| Sensorineural hearing impairment | 0000407 | |
| Short columella | 0002000 | |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ]
|
0001238 |
| Smooth philtrum | 0000319 | |
| Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ]
|
0000243 |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ]
|
0000262 |
| Umbilical hernia | 0001537 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Vesicoureteral reflux | 0000076 | |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
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.
