Orpha Number: 46059
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 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Global |
0001263 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium
Abnormally small skull
[ more ]
|
0000252 | |
Postaxial foot |
Extra toe attached near the little toe
|
0001830 |
Specific learning disability | 0001328 | |
30%-79% of people have these symptoms | ||
Abnormal |
Abnormal shape of platelets
|
0011875 |
Abnormality of the thoracic spine | 0100711 | |
Anisopoikilocytosis | 0004823 | |
Anteverted nares |
Upturned nose
Upturned nasal tip
Upturned nostrils
Nasal tip, upturned
[ more ]
|
0000463 |
Arnold-Chiari malformation | 0002308 | |
Biparietal narrowing | 0004422 | |
Bulbous nose | 0000414 | |
Cerebellar cortical atrophy | 0008278 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Epicanthus |
Prominent eye folds
Eye folds
[ more ]
|
0000286 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hepatic failure |
Liver failure
|
0001399 |
Hepatomegaly |
Enlarged liver
|
0002240 |
High palate |
Increased palatal height
Elevated palate
[ more ]
|
0000218 |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Intrahepatic cholestasis | 0001406 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Long philtrum | 0000343 | |
Meningocele | 0002435 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Little lower jaw
Small lower jaw
Small jaw
[ more ]
|
0000347 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Myoclonus | 0001336 | |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Opacification of the corneal stroma | 0007759 | |
Postaxial hand polydactyly |
Extra little finger
Extra pinky finger
Extra pinkie finger
[ more ]
|
0001162 |
Prominent metopic ridge | 0005487 | |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Sloping forehead |
Receding forehead
Inclined forehead
[ more ]
|
0000340 |
Talipes | 0001883 | |
Low platelet count
|
0001873 | |
Toe |
Webbed toes
Fused toes
[ more ]
|
0001770 |
1%-4% of people have these symptoms | ||
Abnormal circulating cholesterol concentration |
Abnormality of cholesterol metabolism
|
0003107 |
Acanthocytosis | 0001927 | |
Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
Bilobate gallbladder | 0005608 | |
Butterfly vertebrae | 0003316 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ]
|
0003155 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Foam |
0003609 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
Enlarged liver and spleen
|
0001433 | |
Hyperbilirubinemia |
High blood bilirubin levels
|
0002904 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Myelomeningocele | 0002475 | |
0000939 | ||
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Schistocytosis | 0001981 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ]
|
0000215 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
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 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Increased mean platelet volume |
Large platelets
|
0011877 |
Lumbosacral meningocele | 0200133 |
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.
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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