Orpha Number: 1786
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 palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
|
Short fingers or toes
|
0001156 | |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Finger |
0006101 | |
| High forehead | 0000348 | |
| Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
|
0010669 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Microretrognathia |
Small retruded chin
|
0000308 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short palm | 0004279 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Small hand |
Disproportionately small hands
|
0200055 |
| Smooth philtrum | 0000319 | |
| 30%-79% of people have these symptoms | ||
| Abnormal hair pattern |
Abnormal distribution of hair
|
0010720 |
| Bilateral single transverse palmar creases | 0007598 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Feeding difficulties in infancy | 0008872 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Preauricular pit |
Pit in front of the ear
|
0004467 |
| 5%-29% of people have these symptoms | ||
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Coarse hair |
Coarse hair texture
|
0002208 |
| Facial cleft |
Cleft of the face
|
0002006 |
| Hypospadias | 0000047 | |
| Inguinal hernia | 0000023 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
| Reduced number of teeth |
Decreased tooth count
|
0009804 |
| Spina bifida occulta | 0003298 | |
| Webbed neck |
Neck webbing
|
0000465 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Mandibulofacial dysostosis | 0005321 | |
| Single transverse palmar crease | 0000954 | |
| Widow's peak |
Hairline peak
Hairline point
Pointed hairline at front of head
V-shaped frontal hairline
[ more ]
|
0000349 |
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.
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