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 |
|---|---|---|
| 100% of people have these symptoms | ||
| Abnormal cartilage collagen | 0008271 | |
| 80%-99% of people have these symptoms | ||
| Bell-shaped thorax | 0001591 | |
| Degenerative vitreoretinopathy | 0007964 | |
| Delayed epiphyseal ossification | 0002663 | |
| 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 |
| Enlarged joints | 0003037 | |
| Flexion |
0012785 | |
| High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ]
|
0011003 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Keratan sulfate excretion in urine | 0012069 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the epiphysis of the femoral head |
Abnormality of the end part of the innermost thighbone
|
0010574 |
| Aplasia/hypoplasia of the extremities |
Absent/small extremities
Absent/underdeveloped extremities
[ more ]
|
0009815 |
| Aplasia/Hypoplasia of the lens |
Absent/small lens
Absent/underdeveloped lens
[ more ]
|
0008063 |
| Arthropathy |
Disease of the joints
|
0003040 |
| Cervical spine instability | 0010646 | |
|
Cleft roof of mouth
|
0000175 | |
| Disproportionate short-trunk |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ]
|
0003521 |
| Enlarged epiphyses |
Large end part of bone
|
0010580 |
| Enlarged metaphyses |
Enlarged wide portion of a long bone
|
0003051 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hypoplasia of the odontoid process | 0003311 | |
| Lattice retinal degeneration | 0007992 | |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Rhegmatogenous retinal detachment | 0012230 | |
| Short long bone |
Long bone shortening
|
0003026 |
| Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
| 5%-29% of people have these symptoms | ||
| Anterior vertebral fusion | 0004557 | |
| Bilateral |
Drooping of both upper eyelids
|
0001488 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Coronal cleft vertebrae | 0003417 | |
| Delayed patellar ossification | 0006454 | |
| Dumbbell-shaped femur |
Dumbbell-shaped thighbone
|
0006375 |
| Erythematous plaque | 0025474 | |
| Fused cervical vertebrae |
Fused neck
|
0002949 |
| Lens luxation |
Dislocated lens
|
0012019 |
| Pierre-Robin sequence | 0000201 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Vertebral wedging |
Wedge-shaped vertebrae
|
0008422 |
| 1%-4% of people have these symptoms | ||
| Laryngotracheomalacia | 0008755 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Spinal cord compression |
Pressure on spinal cord
|
0002176 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Coxa vara | 0002812 | |
| Dumbbell-shaped long bone | 0000947 | |
| Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
| Flattened, squared-off epiphyses of tubular bones |
Flattened, squared-off end part of tubular bones
|
0006172 |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Hip contracture | 0003273 | |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Hypoplastic pelvis | 0008839 | |
| Inguinal hernia | 0000023 | |
| Lumbar kyphoscoliosis | 0004619 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Motor delay | 0001270 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Retinal detachment |
Detached retina
|
0000541 |
| Splayed epiphyses |
Splayed end part of bone
|
0200003 |
| Tracheomalacia |
Floppy windpipe
|
0002779 |
| Umbilical hernia | 0001537 | |
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Forms of spondyloepiphyseal dysplasia and metatropic dysplasia (see these terms) constitute the principle differential diagnoses. In young patients, clinical and radiological features overlap with those of OSMED (see this term), but in the latter myopia is absent.
Visit the
Orphanet disease page
for more information.
|
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
