Orpha Number: 2511
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 thumb morphology |
Abnormality of the thumb
Abnormality of the thumbs
Thumb deformity
[ more ]
|
0001172 |
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
| Abnormality of the pubic bone |
Abnormality of the pubic bones
Abnormality of the pubis
[ more ]
|
0003172 |
| Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
| Bilateral single transverse palmar creases | 0007598 | |
| Brachycephaly |
Short and broad skull
|
0000248 |
|
Short fingers or toes
|
0001156 | |
| Delayed cranial suture closure | 0000270 | |
| Flat occiput | 0005469 | |
| Global |
0001263 | |
| Hearing abnormality |
Abnormal hearing
|
0000364 |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Large iliac wings | 0008818 | |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| 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 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ]
|
0000446 |
| Pectus excavatum |
Funnel chest
|
0000767 |
|
Drooping upper eyelid
|
0000508 | |
| 0002650 | ||
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Shagreen patch | 0009721 | |
| Short palm | 0004279 | |
| Specific learning disability | 0001328 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
| Unilateral |
One sided cleft upper lip
|
0100333 |
| 30%-79% of people have these symptoms | ||
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
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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