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 | ||
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
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 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
30%-79% of people have these symptoms | ||
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hydronephrosis | 0000126 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypertonia | 0001276 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Narrow mouth |
Small mouth
|
0000160 |
Polycystic kidney dysplasia | 0000113 | |
Drooping upper eyelid
|
0000508 | |
Short neck |
Decreased length of neck
|
0000470 |
Urethral stenosis |
Narrowing of the urethra
|
0008661 |
Urethral valve | 0010481 | |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
5%-29% of people have these symptoms | ||
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Broad eyebrow |
Broad eyebrows
Flared eyebrow
Increased vertical height of eyebrow
Increased vertical thickness of eyebrow
[ more ]
|
0011229 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Cleft roof of mouth
|
0000175 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
High anterior hairline |
High frontal hairline
|
0009890 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplastic left heart |
Underdeveloped left heart
|
0004383 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Patent ductus arteriosus | 0001643 | |
Prominent metopic ridge | 0005487 | |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
0002650 | ||
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Smooth philtrum | 0000319 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Talipes | 0001883 | |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
Thick nasal alae | 0009928 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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