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 | ||
| Global |
0001263 | |
| 30%-79% of people have these symptoms | ||
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Broad jaw |
Broad lower face
Wide jaw
[ more ]
|
0012802 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
|
Dislocated hip since birth
|
0001374 | |
| Constipation | 0002019 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Ectopic anus |
Abnormal anus position
|
0004397 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hooded eyelid | 0030820 | |
|
Decreased activity of gonads
|
0000135 | |
| Infertility | 0000789 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Kyphoscoliosis | 0002751 | |
| Long philtrum | 0000343 | |
| Low hanging columella | 0009765 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Low-set nipples | 0002562 | |
| Macrotia |
Large ears
|
0000400 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Preauricular pit |
Pit in front of the ear
|
0004467 |
| Preauricular skin tag | 0000384 | |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| 0001250 | ||
| Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Supernumerary ribs |
Extra ribs
|
0005815 |
| Truncus arteriosus | 0001660 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the ankles | 0003028 | |
| Agenesis of |
0001274 | |
| Anal atresia |
Absent anus
|
0002023 |
| Arnold-Chiari malformation | 0002308 | |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| 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 |
| Bifid uvula | 0000193 | |
| Breech presentation |
Feet or buttocks of fetus positioned near opening of uterus
|
0001623 |
| Congenital diaphragmatic hernia | 0000776 | |
| Cough |
Coughing
|
0012735 |
| Dandy-Walker malformation | 0001305 | |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
| Inguinal hernia | 0000023 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Multiple joint |
0002828 | |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Patent ductus arteriosus | 0001643 | |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
|
Drooping upper eyelid
|
0000508 | |
| Recurrent candida infections | 0005401 | |
| Redundant neck skin |
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ]
|
0005989 |
| Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
| Sacral dimple |
Spinal dimple
|
0000960 |
| Severe hearing impairment |
Severe deafness
Severe hearing loss
[ more ]
|
0012714 |
| Submucous |
0009101 | |
| Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
|
0000122 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
|
Cleft roof of mouth
|
0000175 | |
| Delayed eruption of primary teeth |
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth
[ more ]
|
0000680 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
| 0002650 | ||
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
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. Submit a new question
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