Orpha Number: 2457
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 skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
|
0001000 |
| 0005781 | ||
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hyperinsulinemia | 0000842 | |
| Increased adipose |
Increased fat around the neck
|
0000468 |
| Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
| Loss of subcutaneous adipose tissue in limbs |
Loss of fat tissue below the skin in limbs
|
0003635 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Narrow nose |
Decreased nasal breadth
Decreased nasal width
Thin nose
[ more ]
|
0000460 |
| Thin skin | 0000963 | |
| 30%-79% of people have these symptoms | ||
| Abnormal tongue morphology | 0030809 | |
| Abnormally large globe |
Increased size of eyes
Large eyes
[ more ]
|
0001090 |
|
Darkened and thickened skin
|
0000956 | |
| Acroosteolysis of distal phalanges (feet) | 0001870 | |
| Alopecia |
Hair loss
|
0001596 |
| Delayed cranial suture closure | 0000270 | |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Facial shape deformation | 0011334 | |
| Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
|
0003124 |
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
| Hypoplasia of teeth | 0000685 | |
| Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ]
|
0001804 |
| Increased circulating free fatty acid level | 0030781 | |
| Increased intraabdominal fat | 0008993 | |
| Increased subcutaneous truncal adipose tissue |
Increased fat below the skin in trunk
|
0009003 |
| Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ]
|
0000831 |
| Osteolytic defects of the distal phalanges of the hand | 0009839 | |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Reduced intrathoracic adipose tissue | 0003809 | |
| Short clavicles |
Short collarbone
|
0000894 |
| Sparse hair | 0008070 | |
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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