Orpha Number: 1236
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 movement |
Movement disorder
Unusual movement
[ more ]
|
0100022 |
| Bilateral single transverse palmar creases | 0007598 | |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ]
|
0010751 |
| Facial cleft |
Cleft of the face
|
0002006 |
| Frontal bossing | 0002007 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypertonia | 0001276 | |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Hypoplasia of the ear cartilage |
Underdeveloped ear cartilage
|
0100720 |
| Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| 0002650 | ||
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| 30%-79% of people have these symptoms | ||
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
| Abnormality of the thorax |
Abnormality of the chest
|
0000765 |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Iris coloboma |
Cat eye
|
0000612 |
| Lip pit | 0100267 | |
| 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 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Preauricular skin tag | 0000384 | |
| 0001250 | ||
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
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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