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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
| Bull's eye maculopathy | 0011504 | |
| 0001363 | ||
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| Growth |
0000824 | |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Overlapping toe |
Overlapping toes
Overriding toes
[ more ]
|
0001845 |
| Patent ductus arteriosus | 0001643 | |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
|
Drooping upper eyelid
|
0000508 | |
| 0002650 | ||
| Self-mutilation |
Deliberate self-harm
Self mutilation
[ more ]
|
0000742 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Percent of people who have these symptoms is not available through HPO | ||
| 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 |
| 0000007 | ||
| Beaking of vertebral bodies | 0004568 | |
| Bifid ribs |
Cleft ribs
Split ribs
[ more ]
|
0000892 |
| Brachycephaly |
Short and broad skull
|
0000248 |
|
Cleft roof of mouth
|
0000175 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Flat face |
Flat facial shape
|
0012368 |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Hemivertebrae |
Missing part of vertebrae
|
0002937 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| 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 |
| Inguinal hernia | 0000023 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ]
|
0001520 |
| Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ]
|
0000527 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Microdontia of primary teeth |
Decreased width of baby teeth
Decreased width of milk teeth
[ more ]
|
0006347 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Motor delay | 0001270 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
| Poliosis |
Patch of white hair
White patch
[ more ]
|
0002290 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Rib fusion |
Fused ribs
|
0000902 |
| Sacral dimple |
Spinal dimple
|
0000960 |
| Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
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.
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.
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