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 hair pattern |
Abnormal distribution of hair
|
0010720 |
| Abnormality of the antihelix | 0009738 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Conspicuously happy disposition | 0100024 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Lack of skin elasticity | 0100679 | |
| Long philtrum | 0000343 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ]
|
0000298 |
| Skin dimple | 0010781 | |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Underfolded helix | 0008577 | |
| 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 | ||
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Global |
0001263 | |
|
Decreased activity of gonads
|
0000135 | |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
| Short neck |
Decreased length of neck
|
0000470 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the nares |
Abnormality of the nostrils
|
0005288 |
| 0001363 | ||
| Finger |
0006101 | |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| Submucous cleft hard palate | 0000176 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| 0000007 | ||
| Broad neck |
Increased width of neck
Wide neck
[ more ]
|
0000475 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Frontal bossing | 0002007 | |
| Frontal upsweep of hair |
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ]
|
0002236 |
| Happy demeanor | 0040082 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplastic nipples |
Small nipples
|
0002557 |
| Joint |
0009473 | |
| Labial hypoplasia |
Underdeveloped labia
|
0000066 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Narrow mouth |
Small mouth
|
0000160 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Postnatal microcephaly | 0005484 | |
| Prominent glabella |
Prominent area between the eyebrows
Protruding area between the eyebrows
[ more ]
|
0002057 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Smooth philtrum | 0000319 | |
| Sporadic |
No previous family history
|
0003745 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
