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 lower lip | 0000178 | |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
0001251 | ||
0000006 | ||
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
Bulbous nose | 0000414 | |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ]
|
0000378 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Febrile |
Fever induced seizures
|
0002373 |
Feeding difficulties in infancy | 0008872 | |
Frontal bossing | 0002007 | |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Language impairment | 0002463 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Motor delay | 0001270 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
Polyphagia |
Voracious appetite
|
0002591 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
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 |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Short attention span |
Poor attention span
Problem paying attention
[ more ]
|
0000736 |
Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Small hand |
Disproportionately small hands
|
0200055 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ]
|
0000687 |
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.