Orpha Number: 1005
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 | ||
| Alopecia |
Hair loss
|
0001596 |
| Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
|
Mental retardation, progressive
Progressive mental retardation
[ more ]
|
0006887 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Sparse hair | 0008070 | |
| 30%-79% of people have these symptoms | ||
| Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ]
|
0008388 |
| Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
| Abnormality of the antihelix | 0009738 | |
| Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
| Abnormality of the helix | 0011039 | |
| Biparietal narrowing | 0004422 | |
|
Short fingers or toes
|
0001156 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Finger |
0006101 | |
| Hyperkeratosis | 0000962 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Macrotia |
Large ears
|
0000400 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Moderate postnatal growth retardation |
Moderate growth delay in children
|
0008855 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Short middle phalanx of finger |
Short middle bone of finger
|
0005819 |
| Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ]
|
0000262 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Vertebral segmentation defect | 0003422 | |
| 5%-29% of people have these symptoms | ||
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Ichthyosis | 0008064 | |
| 0002650 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ]
|
0010554 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Generalized hypoplasia of dental enamel | 0006282 | |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Large fleshy ears | 0002265 | |
| Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ]
|
0008850 |
| Short middle phalanx of the 5th finger |
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ]
|
0004220 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Thoracic kyphoscoliosis | 0005659 | |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
