Orpha Number: 2673
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 oral mucosa morphology |
Abnormality of lining of mouth
|
0011830 |
Abnormality of the antitragus | 0009896 | |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the tragus | 0009912 | |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
Brachycephaly |
Short and broad skull
|
0000248 |
External ear malformation | 0008572 | |
Hypoplasia of the premaxilla |
Hypoplasia of the primary palate bone
Premaxillary bone deficiency
Primary palate bone deficiency
Small premaxilla
Small primary palate bone
Underdevelopment of the premaxilla
Underdevelopment of the primary palate bone
[ more ]
|
0010650 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Muscular |
Low or weak muscle tone
|
0001252 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
30%-79% of people have these symptoms | ||
Abnormal distal phalanx morphology of finger |
Abnormality of the outermost finger bone
|
0009832 |
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Abnormality of the philtrum | 0000288 | |
Corneal dystrophy | 0001131 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
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 |
Pectus excavatum |
Funnel chest
|
0000767 |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
Drooping upper eyelid
|
0000508 | |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
|
0000122 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
0000007 | ||
Bifid nose |
Indentation or clefting of the nose
|
0011803 |
0002353 | ||
Frontal bossing | 0002007 | |
Midline defect of the nose | 0004122 |
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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