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 | ||
| Pseudohypoparathyroidism | 0000852 | |
| 80%-99% of people have these symptoms | ||
| Elevated circulating parathyroid |
0003165 | |
| Hyperphosphatemia |
High blood phosphate levels
|
0002905 |
| Low urinary cyclic AMP response to PTH administration | 0003456 | |
| Pituitary resistance to thyroid hormone | 0008227 | |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 30%-79% of people have these symptoms | ||
| Basal ganglia calcification | 0002135 | |
|
Short fingers or toes
|
0001156 | |
| Broad 1st metacarpal |
Wide 1st long bone of hand
|
0010027 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Choroid plexus calcification | 0006960 | |
| Constrictive median neuropathy | 0012185 | |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| 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 |
| Ectopic ossification | 0011986 | |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| Growth hormone deficiency | 0000824 | |
| Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
| Increased bone mineral density |
Increased bone density
|
0011001 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Obesity |
Having too much body fat
|
0001513 |
| Polyphagia |
Voracious appetite
|
0002591 |
| Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
| Short 5th metacarpal |
Shortened 5th long bone of hand
|
0010047 |
| Short fifth metatarsal |
Short 5th long bone of foot
|
0004704 |
| Short neck |
Decreased length of neck
|
0000470 |
| Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
| 5%-29% of people have these symptoms | ||
| Abdominal symptom | 0011458 | |
| Abnormal |
0011869 | |
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Band keratopathy | 0000585 | |
| Broad distal phalanx of the thumb |
Broad outermost bone of the thumb
Wide outermost bone of thumb
[ more ]
|
0009642 |
| Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
| Chest pain | 0100749 | |
| Choreoathetosis | 0001266 | |
| Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ]
|
0001289 |
| Conjunctivitis |
Pink eye
|
0000509 |
| Depressivity |
Depression
|
0000716 |
| Dyspnea |
Trouble breathing
|
0002094 |
| Hypergonadotropic |
0000815 | |
| Hyperostosis frontalis interna | 0004438 | |
| 0000822 | ||
| Hypocalcemic tetany | 0003472 | |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Irritability |
Irritable
|
0000737 |
| Laryngeal |
0012049 | |
| Muscle spasm | 0003394 | |
| Myoclonic spasms | 0003739 | |
| Oligomenorrhea |
Light or infrequent menstrual periods
|
0000876 |
| Osteoma cutis | 0025027 | |
| Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
| Prolonged QT interval | 0001657 | |
| Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
| Sensorineural hearing impairment | 0000407 | |
| Short 3rd metacarpal |
Shortened 3rd long bone of hand
|
0010041 |
| Spinal cord compression |
Pressure on spinal cord
|
0002176 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| 1%-4% of people have these symptoms | ||
| Elevated calcitonin | 0003528 | |
| Hypocalcemic |
Low calcium seizures
|
0002199 |
| Reduced circulating prolactin concentration | 0008202 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Hypogonadism |
Decreased activity of gonads
|
0000135 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| 0000939 | ||
| Seizure | 0001250 | |
| Short finger |
Stubby finger
|
0009381 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short metatarsal |
Short long bone of foot
|
0010743 |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
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
|
|---|
|
Differential diagnoses include primary hypothyroidism, secondary hyperparathyroidism due to vitamin D deficiency, and other types of PHP.
Visit the
Orphanet disease page
for more information.
|
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.
