Orpha Number: 1305
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 | ||
Short fingers or toes
|
0001156 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Deviation of the 2nd finger |
Displaced index finger
|
0009468 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
30%-79% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
External ear malformation | 0008572 | |
Hallux valgus |
Bunion
|
0001822 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
5%-29% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of the spleen | 0001743 | |
Annular pancreas | 0001734 | |
Duodenal atresia |
Absence or narrowing of first part of small bowel
|
0002247 |
Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
Oral cleft |
Cleft of the mouth
|
0000202 |
Patent ductus arteriosus | 0001643 | |
Sensorineural hearing impairment | 0000407 | |
1%-4% of people have these symptoms | ||
2-3 toe syndactyly |
Webbed 2nd and 3rd toes
|
0004691 |
4-5 toe syndactyly |
Webbed 4th-5th toes
|
0004692 |
Percent of people who have these symptoms is not available through HPO | ||
Accessory spleen | 0001747 | |
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger |
Absent/small middle index finger bone
Absent/underdeveloped middle index finger bone
[ more ]
|
0009568 |
Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
Absent/small middle bone of pinky finger
Absent/underdeveloped middle bone of little finger
Absent/underdeveloped middle bone of pinkie finger
Absent/underdeveloped middle bone of pinky finger
[ more ]
|
0009161 |
Asplenia |
Absent spleen
|
0001746 |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Depressed nasal tip |
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed
[ more ]
|
0000437 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Polysplenia |
Multiple small spleens
|
0001748 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ]
|
0000269 |
Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
Small anterior fontanelle | 0000237 | |
Specific learning disability | 0001328 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
Tracheoesophageal fistula | 0002575 | |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Vocal cord paralysis |
Inability to move vocal cords
|
0001605 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
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. Submit a new question
My son was recently diagnosed with Feingold. I was told by his doctor that this syndrome was very rare. So I started doing research online and came across a web page about who had discovered it and when. It said since 2003 only 79 people world wide have been diagnosed with it. My question is do you know how many people have been diagnosed with it now? See answer