Orpha Number: 1438
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 | ||
| Abnormality of the antihelix | 0009738 | |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Cachexia |
Wasting syndrome
|
0004326 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Frontal bossing | 0002007 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
| Long philtrum | 0000343 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
| Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
|
Seizure
|
0001250 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
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.
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