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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the cerebral white matter | 0002500 | |
| Absence of the pulmonary valve | 0005134 | |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 |
| Asthma | 0002099 | |
| Atopic dermatitis | 0001047 | |
| Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| 0000006 | ||
| Bifid uvula | 0000193 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Broad-based gait |
Wide based walk
|
0002136 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
| Chorea | 0002072 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Delayed |
0002188 | |
| 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 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Dysplastic aortic valve | 0005176 | |
| Dysplastic pulmonary valve | 0005164 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Growth |
0000824 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypospadias | 0000047 | |
| Inguinal hernia | 0000023 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Macrotia |
Large ears
|
0000400 |
| 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 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Motor delay | 0001270 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Optic atrophy | 0000648 | |
| Overlapping toe |
Overlapping toes
Overriding toes
[ more ]
|
0001845 |
| Patent ductus arteriosus | 0001643 | |
| Pes cavus |
High-arched foot
|
0001761 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Poor coordination | 0002370 | |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ]
|
0001838 |
| Rod-cone dystrophy | 0000510 | |
| 0002650 | ||
| Secretory IgA deficiency | 0004433 | |
| 0001250 | ||
| Sensorineural hearing impairment | 0000407 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Short philtrum | 0000322 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sporadic |
No previous family history
|
0003745 |
| Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Tremor | 0001337 | |
| Umbilical hernia | 0001537 | |
| U-Shaped upper lip vermilion |
Carp-like mouth
Carp-shaped mouth
Fish mouth
Large, carp-shaped mouth
Wide, carp-shaped mouth
[ more ]
|
0010806 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Ventriculomegaly | 0002119 | |
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
