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 | ||
| Fasting |
Low blood sugar when fasting
|
0003162 |
| Hyperkeratosis | 0000962 | |
| Insulin resistance |
Body fails to respond to insulin
|
0000855 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Postprandial hyperglycemia | 0011998 | |
| Reduced subcutaneous adipose |
Reduced fat tissue below the skin
|
0003758 |
| Severe intrauterine growth retardation |
Severe prenatal growth deficiency
|
0008846 |
| 30%-79% of people have these symptoms | ||
| Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
|
0003270 |
|
Darkened and thickened skin
|
0000956 | |
| Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
| Enlarged kidney |
Large kidneys
|
0000105 |
| Facial hypertrichosis |
Increased facial hair growth
|
0002219 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperinsulinemia | 0000842 | |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Labial hypertrophy |
Enlargement of the labia
Enlargement of the vaginal lips
[ more ]
|
0000065 |
| Long penis |
Enlarged penis
|
0000040 |
| Overgrowth of external genitalia | 0003247 | |
| Prominent nipples | 0004405 | |
| Recurrent infantile hypoglycemia |
Recurrent low blood sugar in infant
|
0004914 |
| Severe global |
0011344 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| 5%-29% of people have these symptoms | ||
| Central hypothyroidism | 0011787 | |
| Enlarged ovaries | 0100879 | |
| Hyperaldosteronism |
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production
[ more ]
|
0000859 |
| Hypercalciuria |
Elevated urine calcium levels
|
0002150 |
| Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
|
0000974 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypokalemia |
Low blood potassium levels
|
0002900 |
| Increased circulating renin level |
Elevated blood renin level
|
0000848 |
| Large hands |
large hand
|
0001176 |
| Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Megarectum | 0025024 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular |
Low muscle tone in trunk
|
0008936 |
| Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Rectal prolapse |
Rectum protrudes through anus
|
0002035 |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the abdominal wall | 0004298 | |
| Adipose tissue loss |
Loss of fat tissue
|
0008887 |
| 0000007 | ||
| Cholestasis |
Slowed or blocked flow of bile from liver
|
0001396 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Elfin facies |
Elf-like facial appearance
Elf-like facial features
[ more ]
|
0004428 |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Hepatic fibrosis | 0001395 | |
| Hyperglycemia |
High blood sugar
|
0003074 |
| Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
| Hypertrichosis | 0000998 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Macrotia |
Large ears
|
0000400 |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Ovarian cyst | 0000138 | |
| Pancreatic islet- |
0004510 | |
| Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
| Severe failure to thrive |
Severe faltering weight
Severe weight faltering
[ more ]
|
0001525 |
| Small face |
Short and narrow face
Small facies
[ more ]
|
0000274 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The differential diagnosis should include the other forms of extreme insulin resistance.
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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