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 cortical bone morphology | 0003103 | |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
Delayed cranial suture closure | 0000270 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Micrognathia |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
30%-79% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
Abnormality of the pubic bone |
Abnormality of the pubic bones
Abnormality of the pubis
[ more ]
|
0003172 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Anisospondyly | 0002879 | |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Coxa valga | 0002673 | |
Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
Frontal bossing | 0002007 | |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Hydronephrosis | 0000126 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Misalignment of teeth |
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ]
|
0000692 |
Osteolytic defects of the phalanges of the hand |
Breakdown of small bones of fingers
|
0009771 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Scoliosis | 0002650 | |
Short clavicles |
Short collarbone
|
0000894 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Vesicoureteral reflux | 0000076 | |
5%-29% of people have these symptoms | ||
Omphalocele | 0001539 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Percent of people who have these symptoms is not available through HPO | ||
Anterior concavity of thoracic vertebrae | 0004611 | |
Cleft roof of mouth
|
0000175 | |
Coarse hair |
Coarse hair texture
|
0002208 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Frontal hirsutism |
Hairy forehead
|
0011335 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Genu valgum |
Knock knees
|
0002857 |
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Kyphoscoliosis | 0002751 | |
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
Long neck |
Elongated neck
Increased length of neck
[ more ]
|
0000472 |
Macrotia |
Large ears
|
0000400 |
Mitral valve prolapse | 0001634 | |
Motor delay | 0001270 | |
Obtuse angle of mandible | 0005446 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ]
|
0005792 |
Small face |
Short and narrow face
Small facies
[ more ]
|
0000274 |
Stillbirth |
Stillborn
|
0003826 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ]
|
0002982 |
Tricuspid valve prolapse | 0001704 | |
Ureteral stenosis |
Narrowing of the ureter
|
0000071 |
0001423 |
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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