Orpha Number: 2115
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 | ||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ]
|
0003189 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
Narrow mouth |
Small mouth
|
0000160 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
30%-79% of people have these symptoms | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Abnormality of the shoulder | 0003043 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Hypospadias | 0000047 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Multicystic kidney dysplasia | 0000003 | |
0002650 | ||
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
0000007 | ||
External genital hypoplasia |
Underdevelopment of external reproductive organs
|
0003241 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Macrotia |
Large ears
|
0000400 |
Malrotation of small bowel | 0004794 | |
Pyloric stenosis | 0002021 | |
Renal cortical microcysts | 0004734 | |
Varicose veins | 0002619 |
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.
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