Orpha Number: 2135
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 | ||
| Abdominal pain |
Pain in stomach
Stomach pain
[ more ]
|
0002027 |
| Areflexia |
Absent tendon reflexes
|
0001284 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Delayed cranial suture closure | 0000270 | |
| Erythema | 0010783 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Generalized hyperpigmentation | 0007440 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Irregular hyperpigmentation | 0007400 | |
| Macule |
Flat, discolored area of skin
|
0012733 |
| Mastocytosis | 0100495 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Optic atrophy | 0000648 | |
| Papule | 0200034 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
| 0001250 | ||
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|
0001482 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Urticaria |
Hives
|
0001025 |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
| Hypotension |
Low blood pressure
|
0002615 |
| Immunologic hypersensitivity | 0100326 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Irritability |
Irritable
|
0000737 |
| Lichenification | 0100725 | |
| Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ]
|
0003189 |
| Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
| Pneumonia | 0002090 | |
| Prominent supraorbital ridges |
Prominent brow
|
0000336 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| 0002650 | ||
| Severe global |
0011344 | |
| Skin vesicle | 0200037 | |
| Telangiectasia of the skin | 0100585 | |
| Thickened skin |
Thick skin
|
0001072 |
| Vomiting |
Throwing up
|
0002013 |
| 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 |
| 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 metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
| Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
|
0001000 |
| 0000007 | ||
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Cutaneous mastocytosis | 0200151 | |
| Dermatographic urticaria | 0011971 | |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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.
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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