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 cardiac septum morphology | 0001671 | |
| Bifid nasal tip |
Cleft nasal tip
|
0000456 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| 30%-79% of people have these symptoms | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Broad palm |
Broad hand
Broad hands
Wide palm
[ more ]
|
0001169 |
| Flexion |
0010327 | |
| Flexion contracture of the 4th toe | 0010339 | |
| Fused teeth |
Fusion of teeth
Joined teeth
[ more ]
|
0011090 |
| Hammertoe |
Hammer toe
Hammertoes
[ more ]
|
0001765 |
| Long philtrum | 0000343 | |
| Misalignment of teeth |
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ]
|
0000692 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Oligodontia |
Failure of development of more than six teeth
|
0000677 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Radioulnar synostosis |
Fused forearm bones
|
0002974 |
| Submucous cleft hard palate | 0000176 | |
| 5%-29% of people have these symptoms | ||
| Adrenal insufficiency | 0000846 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
| Dextrocardia |
Heart tip and four chambers point towards right side of body
|
0001651 |
| Double outlet right ventricle | 0001719 | |
| Ectopia lentis | 0001083 | |
| Feeding difficulties in infancy | 0008872 | |
| Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
| Genu valgum |
Knock knees
|
0002857 |
| 0000501 | ||
| Global |
0001263 | |
| Hand clenching |
Clenched hands
|
0001188 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypospadias | 0000047 | |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Intestinal malrotation | 0002566 | |
| Iris coloboma |
Cat eye
|
0000612 |
| Mitral valve prolapse | 0001634 | |
| Patent ductus arteriosus | 0001643 | |
| Peripheral pulmonary artery stenosis |
Narrowing of peripheral lung artery
|
0004969 |
| Phthisis bulbi | 0000667 | |
|
Drooping upper eyelid
|
0000508 | |
| Retinal detachment |
Detached retina
|
0000541 |
| 0002650 | ||
| 0001250 | ||
| Sensorineural hearing impairment | 0000407 | |
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
| Single median maxillary incisor |
Only one upper front tooth
|
0006315 |
| Spastic paraparesis | 0002313 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
|
0000528 |
| Anteverted ears | 0040080 | |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Asymmetry of the ears |
Asymmetric ears
|
0010722 |
| 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 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Developmental cataract |
Clouding of the lens of the eye at birth
|
0000519 |
| Exotropia |
Outward facing eye ball
|
0000577 |
| Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
|
0011069 |
| Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
| Laterally curved eyebrow | 0007733 | |
| 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 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Motor delay | 0001270 | |
| Persistence of primary teeth |
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ]
|
0006335 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| Remnants of the hyaloid vascular system | 0007968 | |
| Septate vagina |
Double vagina
|
0001153 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
| 0001423 | ||
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
