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 | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ]
|
0008065 |
Bulbous nose | 0000414 | |
Delayed eruption of teeth |
Delayed eruption
Late eruption of teeth
Eruption, delayed
Delayed tooth eruption
Delayed teeth eruption
Late tooth eruption
[ more ]
|
0000684 |
Ectropion |
Eyelid turned out
|
0000656 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Hearing impairment |
Hearing defect
Deafness
[ more ]
|
0000365 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
Sparse or absent eyelashes | 0200102 | |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
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 |
30%-79% of people have these symptoms | ||
Breast aplasia |
Absent breast
|
0100783 |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
|
0000974 |
Hypoplastic nipples |
Small nipples
|
0002557 |
5%-29% of people have these symptoms | ||
Ablepharon |
Absent eyelids
Missing eyelids
[ more ]
|
0011224 |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of female external genitalia |
Abnormal female external genitalia
|
0000055 |
Abnormality of male external genitalia | 0000032 | |
Absent nipple |
Absent nipples
|
0002561 |
0000006 | ||
Dermal atrophy |
Skin degeneration
|
0004334 |
Dry skin | 0000958 | |
Hypertrichosis | 0000998 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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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