Orpha Number: 1827
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 toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ]
|
0008388 |
| Abnormality of the glabella |
Abnormality of the area between the eyebrows
|
0002056 |
| Agenesis of |
0001274 | |
| Bifid nasal tip |
Cleft nasal tip
|
0000456 |
| Bifid nose |
Indentation or clefting of the nose
|
0011803 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Encephalocele | 0002084 | |
| Global |
0001263 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Median |
Central cleft palate
Midline cleft palate
[ more ]
|
0009099 |
| Meningocele | 0002435 | |
| Midline |
0006866 | |
| Preaxial foot |
0001841 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Thick nasal alae | 0009928 | |
| 30%-79% of people have these symptoms | ||
| Choroid plexus cyst | 0002190 | |
| Hypoplasia of the olfactory bulb | 0040326 | |
| Median |
Central cleft upper lip
|
0000161 |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
| Aplasia/Hypoplasia of the tibia |
Absent/small shankbone
Absent/small shinbone
Absent/underdeveloped shankbone
Absent/underdeveloped shinbone
[ more ]
|
0005772 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| 0000501 | ||
| Hypopituitarism | 0040075 | |
| Large sella turcica |
Big sella turcica
|
0002690 |
| Myopia |
Close sighted
Nearsightedness
Near sighted
Near sightedness
[ more ]
|
0000545 |
| Patellar hypoplasia |
Small kneecap
Underdeveloped kneecap
[ more ]
|
0003065 |
|
Drooping upper eyelid
|
0000508 | |
| Retrocerebellar cyst | 0006951 | |
| 0001250 | ||
| Upper airway obstruction | 0002781 | |
| U-Shaped upper lip vermilion |
Carp-like mouth
Carp-shaped mouth
Fish mouth
Large, carp-shaped mouth
Wide, carp-shaped mouth
[ more ]
|
0010806 |
| Vertical clivus | 0010559 | |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| 1%-4% of people have these symptoms | ||
| Dermoid cyst | 0025247 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Cleft palate |
Cleft roof of mouth
|
0000175 |
| Cleft upper lip |
Harelip
|
0000204 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ]
|
0012032 |
| Midline defect of the nose | 0004122 | |
| Onychogryposis |
Thick nail
Thickened nails
[ more ]
|
0001805 |
| Periventricular nodular heterotopia | 0032388 | |
| Polydactyly |
More than five fingers or toes on hands or feet
|
0010442 |
| Preaxial polydactyly | 0100258 | |
|
Webbed fingers or toes
|
0001159 | |
| 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 |
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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