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 | ||
| Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ]
|
0008066 |
| Abnormal eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
| Alopecia |
Hair loss
|
0001596 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Chronic diarrhea | 0002028 | |
| Dry skin | 0000958 | |
| Erythema | 0010783 | |
| Malabsorption |
Intestinal malabsorption
|
0002024 |
| Pustule |
Pimple
|
0200039 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 30%-79% of people have these symptoms | ||
| Blepharitis |
Inflammation of eyelids
|
0000498 |
| Cheilitis |
Inflammation of the lips
|
0100825 |
| Conjunctivitis |
Pink eye
|
0000509 |
| Emotional lability |
Emotional instability
|
0000712 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Furrowed tongue |
Grooved tongue
|
0000221 |
| Glossitis |
Inflammation of the tongue
Smooth swollen tongue
[ more ]
|
0000206 |
| Paronychia | 0001818 | |
| Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
| Ridged fingernail |
Longitudinally grooved fingernails
|
0008402 |
| Ridged nail |
Grooved nails
Nail ridging
[ more ]
|
0001807 |
| Skin ulcer |
Open skin sore
|
0200042 |
| 5%-29% of people have these symptoms | ||
| Anorexia | 0002039 | |
| Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
| Poor appetite |
Decreased appetite
|
0004396 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| Weight loss | 0001824 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Alopecia of scalp |
Pathologic hair loss from scalp
Scalp hair loss
[ more ]
|
0002293 |
| 0001251 | ||
| 0000007 | ||
| Decreased serum testosterone level |
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ]
|
0040171 |
| Decreased taste sensation |
Decreased taste
|
0000224 |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Diarrhea |
Watery stool
|
0002014 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
|
Decreased activity of gonads
|
0000135 | |
| Impaired T |
T-cell dysfunction
|
0005435 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Irritability |
Irritable
|
0000737 |
| Lethargy | 0001254 | |
| Low alkaline phosphatase |
Decreased serum alkaline phosphatase
|
0003282 |
| Recurrent candida infections | 0005401 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Tremor | 0001337 | |
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
|
|---|
|
Differential diagnoses include impetigo contagiosa, candidiasis, psoriasis, and other pathogen-related skin diseases. Sickle cell disease and related diseases, non-genetic or acquired causes of zinc deficiency such as glucagonoma (see these terms), chronic liver and renal diseases, nutritional deficiency, chronic inflammatory bowel diseases, AIDS, burn injuries, and excessive perspiration in hot climates should also be excluded.
Visit the
Orphanet disease page
for more information.
|
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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