Orpha Number: 1299
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 | ||
Abnormality of dentin |
Abnormal dentin
|
0010299 |
Abnormality of the sella turcica | 0002679 | |
Abnormality of the shape of the midface | 0430026 | |
Abnormality of the vertebral spinous processes | 0008516 | |
Advanced pneumatization of the mastoid process | 0010724 | |
Attached earlobe | 0009907 | |
Bifid uvula | 0000193 | |
Blepharochalasis | 0010749 | |
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 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
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 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Flat face |
Flat facial shape
|
0012368 |
High forehead | 0000348 | |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
IQ between 34 and 49
|
0002342 | |
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
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 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Pectus excavatum |
Funnel chest
|
0000767 |
Penoscrotal hypospadias | 0000808 | |
Periorbital wrinkles |
Wrinkles around the eyes
|
0000607 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Rootless teeth |
Absence of tooth root
Missing tooth root
Teeth without roots
[ more ]
|
0011072 |
Short neck |
Decreased length of neck
|
0000470 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Submucous cleft hard palate | 0000176 | |
Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
Unilateral |
One sided cleft palate
|
0100334 |
30%-79% of people have these symptoms | ||
0001363 | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ]
|
0000410 |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ]
|
0006480 |
Short philtrum | 0000322 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
Thoracolumbar kyphoscoliosis | 0003423 | |
5%-29% of people have these symptoms | ||
Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ]
|
0000625 |
0001250 | ||
Ureteral stenosis |
Narrowing of the ureter
|
0000071 |
1%-4% of people have these symptoms | ||
Absent external genitalia | 0000042 | |
Absent nipple |
Absent nipples
|
0002561 |
Amelia involving the lower limbs | 0009818 | |
Anal stenosis |
Narrowing of anal opening
|
0002025 |
Anteriorly placed anus | 0001545 | |
Bladder exstrophy | 0002836 | |
Short fingers or toes
|
0001156 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
0000501 | ||
Phthisis bulbi | 0000667 | |
Umbilical hernia | 0001537 | |
Upper limb peromelia | 0009814 | |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the vertebral column |
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ]
|
0000925 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
0000007 | ||
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
Broad philtrum | 0000289 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Cutaneous |
0012725 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
Exodeviation | 0020049 | |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Long philtrum | 0000343 | |
Low hanging columella | 0009765 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Megalocornea |
Enlarged cornea
|
0000485 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Multiple impacted teeth |
Impacted teeth
|
0001571 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
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.
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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