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 bone ossification | 0011849 | |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
|
0000974 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Long philtrum | 0000343 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Proptosis |
Bulging eye
Prominent eyes
Eyeballs bulging out
Protruding eyes
Prominent globes
[ more ]
|
0000520 |
| 0002650 | ||
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short iliac bones |
Short pelvis bones
|
0100866 |
| Short palm | 0004279 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Spondyloepimetaphyseal dysplasia | 0002651 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| 30%-79% of people have these symptoms | ||
|
Cleft roof of mouth
|
0000175 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| 5%-29% of people have these symptoms | ||
| Abnormal cardiac septum morphology | 0001671 | |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Carpal synostosis | 0009702 | |
| Ectopia lentis | 0001083 | |
| Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 |
| Global |
0001263 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| 1%-4% of people have these symptoms | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Flat face |
Flat facial shape
|
0012368 |
| Genu valgum |
Knock knees
|
0002857 |
| Large iliac wings | 0008818 | |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Percent of people who have these symptoms is not available through HPO | ||
| 11 pairs of ribs | 0000878 | |
| Advanced ossification of carpal bones | 0004233 | |
| 0000007 | ||
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Broad distal phalanx of finger |
Broad outermost finger bone
|
0009836 |
| Coxa valga | 0002673 | |
| Cupped ribs |
Rib cupping
|
0000887 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
| Delayed proximal femoral epiphyseal ossification | 0008828 | |
| Dislocated radial head | 0003083 | |
| Epiphyseal dysplasia |
Abnormal development of the ends of long bones in arms and legs
|
0002656 |
| Flared iliac wings | 0002869 | |
| Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
| Flaring of rib cage | 0000904 | |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Fragile skin |
Skin fragility
|
0001030 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hallux valgus |
Bunion
|
0001822 |
| Hip subluxation |
Partial hip dislocation
|
0030043 |
| Hypoplastic iliac body | 0008824 | |
| Irregular vertebral endplates | 0003301 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Kyphoscoliosis | 0002751 | |
| Long upper lip |
Elongation of upper lip
Increased height of upper lip
Increased vertical length of upper lip
[ more ]
|
0011341 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Mitral regurgitation | 0001653 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| 0000939 | ||
| Oval face |
Oval facial shape
|
0000300 |
| Ovoid vertebral bodies | 0003300 | |
| Paraplegia |
Leg paralysis
|
0010550 |
| Pathologic fracture |
Spontaneous fracture
|
0002756 |
| Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
| Radial head subluxation | 0003048 | |
| Short femoral neck |
Short neck of thighbone
|
0100864 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short nail |
Short nails
|
0001799 |
| Short neck |
Decreased length of neck
|
0000470 |
| Slender long bone |
Long bones slender
Thin long bones
[ more ]
|
0003100 |
| Soft, doughy skin | 0001027 | |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| Spinal cord compression |
Pressure on spinal cord
|
0002176 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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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