Orpha Number: 1449
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 | ||
| Abnormality of the posterior cranial fossa | 0000932 | |
| Bilateral |
Drooping of both upper eyelids
|
0001488 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Flat face |
Flat facial shape
|
0012368 |
| Flat forehead |
Flattened forehead
|
0004425 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
|
Decreased activity of gonads
|
0000135 | |
| Hypospadias | 0000047 | |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Motor delay | 0001270 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Prominent crus of helix | 0009899 | |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Severe global |
0011344 | |
| Severe intrauterine growth retardation |
Severe prenatal growth deficiency
|
0008846 |
| Short philtrum | 0000322 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Small earlobe |
Small earlobes
|
0000385 |
| Speech articulation difficulties | 0009088 | |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| Unilateral ptosis |
Dropping of one upper eyelid
|
0007687 |
| 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 |
| 30%-79% of people have these symptoms | ||
| Heart murmur |
Heart murmurs
|
0030148 |
| Narrow naris |
Narrow nostrils
Slit-like nostrils
Small nostrils
Thin nostrils
[ more ]
|
0009933 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ]
|
0001238 |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ]
|
0001317 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Cafe-au-lait spot | 0000957 | |
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Facial hemangioma | 0000329 | |
| Genu valgum |
Knock knees
|
0002857 |
| Hydrocele |
0000034 | |
| Hyperpigmented nevi | 0007481 | |
| Lumbar kyphoscoliosis | 0004619 | |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| 0002861 | ||
| Single transverse palmar crease | 0000954 | |
| Small hand |
Disproportionately small hands
|
0200055 |
| 1%-4% of people have these symptoms | ||
| 3-4 toe |
Webbed 3rd-4th toes
|
0009779 |
| Bifid uvula | 0000193 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Holoprosencephaly | 0001360 | |
| Median |
Central cleft palate
Midline cleft palate
[ more ]
|
0009099 |
| Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
| Short 5th finger |
Short fifth finger
Short fifth fingers
Short little finger
Short pinkie finger
Short pinky finger
[ more ]
|
0009237 |
| Situs inversus totalis |
All organs on wrong side of body
|
0001696 |
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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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