Orpha Number: 221120
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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal temporal bone morphology | 0009911 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Frontal upsweep of hair |
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ]
|
0002236 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| 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 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Limited elbow movement |
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ]
|
0002996 |
| Low-set, posteriorly rotated ears | 0000368 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Patchy reduction of bone mineral density | 0010657 | |
| 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 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
| 5%-29% of people have these symptoms | ||
| Absent earlobe |
Earlobe, absent
Lobeless ears
[ more ]
|
0000387 |
| Asplenia |
Absent spleen
|
0001746 |
|
Short fingers or toes
|
0001156 | |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Clinodactyly of the 4th finger | 0040025 | |
| Clinodactyly of the 5th toe | 0001864 | |
| Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
|
0100759 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Fatigable weakness | 0003473 | |
| Frontal bossing | 0002007 | |
| Global |
0001263 | |
| Hip subluxation |
Partial hip dislocation
|
0030043 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypoplasia of the antihelix | 0009739 | |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Inguinal hernia | 0000023 | |
| Inverted nipples | 0003186 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Microdontia |
Decreased width of tooth
|
0000691 |
| Mild conductive hearing impairment | 0008598 | |
| Nasal speech |
Nasal voice
|
0001611 |
| Nasogastric tube feeding in infancy | 0011470 | |
| Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Overlapping toe |
Overlapping toes
Overriding toes
[ more ]
|
0001845 |
| Patent foramen ovale | 0001655 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Poor suck |
Poor sucking
|
0002033 |
| Postaxial |
0100259 | |
| Posterolateral diaphragmatic hernia | 0025193 | |
| Prominent sternum | 0000884 | |
| Sacrococcygeal pilonidal abnormality | 0010767 | |
| Sagittal |
Early closure of midline skull joint
Midline skull joint closes early
[ more ]
|
0004442 |
| Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
| Short philtrum | 0000322 | |
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
| Single transverse palmar crease | 0000954 | |
| Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ]
|
0001238 |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
| Talipes valgus | 0004684 | |
| 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 | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| 0000007 | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
|
Cleft roof of mouth
|
0000175 | |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Joint |
0009473 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Megalencephaly | 0001355 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
| Oligodontia |
Failure of development of more than six teeth
|
0000677 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Rudimentary postaxial polydactyly of hands | 0005676 | |
|
Webbed fingers or toes
|
0001159 | |
| Thoracic |
0002943 | |
| Umbilical hernia | 0001537 | |
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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