Orpha Number: 2645
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 form of the vertebral bodies | 0003312 | |
| 0001363 | ||
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Multiple unerupted teeth |
Multiple non-erupting teeth
|
0006283 |
| Reduced number of teeth |
Decreased tooth count
|
0009804 |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the clavicle |
Abnormal collarbone
|
0000889 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| 5%-29% of people have these symptoms | ||
| Abnormal bone ossification | 0011849 | |
|
Short fingers or toes
|
0001156 | |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Inguinal hernia | 0000023 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| 0002650 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the nasopharynx | 0001739 | |
| 0000006 | ||
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
| Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
| Broad metacarpals |
Wide long bones of hand
|
0001230 |
| Broad metatarsal |
Wide long bone of foot
|
0001783 |
| Broad palm |
Broad hand
Broad hands
Wide palm
[ more ]
|
0001169 |
| Broad phalanx |
Wide digital bones
|
0006009 |
| Chordee | 0000041 | |
| Cloverleaf skull | 0002676 | |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| 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 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Frontal bossing | 0002007 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
| Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
| Hypospadias | 0000047 | |
| Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ]
|
0002659 |
| Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ]
|
0009826 |
| Long philtrum | 0000343 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| 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 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Nasal obstruction |
Blockage of nose
Nasal blockage
Obstruction of nose
Stuffy nose
[ more ]
|
0001742 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Pseudoarthrosis | 0005864 | |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ]
|
0000586 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short metatarsal |
Short long bone of foot
|
0010743 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short palm | 0004279 | |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Unerupted tooth |
Failure of eruption of tooth
|
0000706 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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