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 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the clavicle |
Abnormal collarbone
|
0000889 |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
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 |
Hypoplastic cervical vertebrae | 0008434 | |
Increased bone mineral density |
Increased bone density
|
0011001 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Neonatal short-limb |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ]
|
0008921 |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
0002650 | ||
Short finger |
Stubby finger
|
0009381 |
Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
30%-79% of people have these symptoms | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cleft roof of mouth
|
0000175 | |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
Hip dysplasia | 0001385 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Low-set, posteriorly rotated ears | 0000368 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Overfolded helix |
Overfolded ears
|
0000396 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
5%-29% of people have these symptoms | ||
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
|
0000974 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Visceral angiomatosis | 0100761 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cervical kyphosis |
Rounded neck
|
0002947 |
Costal cartilage calcification | 0006646 | |
Cystic lesions of the pinnae | 0010723 | |
Disproportionate short-limb short stature |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ]
|
0008873 |
Flattened epiphysis |
Flat end part of bone
|
0003071 |
Glabellar hemangioma | 0001076 | |
Hip |
0003273 | |
Hitchhiker thumb | 0001234 | |
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Hypertrophic auricular cartilage | 0008608 | |
Irregular epiphyses |
Irregular end part of long bone
|
0010582 |
Kyphoscoliosis | 0002751 | |
Laryngotracheal stenosis | 0004894 | |
Short long bone |
Long bone shortening
|
0003026 |
Spinal cord compression |
Pressure on spinal cord
|
0002176 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
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.
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.