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 dermatoglyphics |
Abnormal fingerprints
|
0007477 |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Low-set, posteriorly rotated ears | 0000368 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
30%-79% of people have these symptoms | ||
Abnormality of the fontanelles or cranial sutures | 0000235 | |
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Coarse hair |
Coarse hair texture
|
0002208 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
Global developmental delay | 0001263 | |
Hernia | 0100790 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ]
|
0001804 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Ptosis |
Drooping upper eyelid
|
0000508 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
5%-29% of people have these symptoms | ||
Abnormality of the cardiovascular system |
Cardiovascular abnormality
|
0001626 |
Cleft roof of mouth
|
0000175 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Neoplasm | 0002664 |
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.
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Is there any research on what happens to these children in adulthood? See answer