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 | ||
| Cortical thickening of long bone diaphyses | 0005791 | |
| Delayed cranial suture closure | 0000270 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Stenosis of the medullary cavity of the long bones | 0100254 | |
| 30%-79% of people have these symptoms | ||
| Abnormal circulating follicle-stimulating |
0030346 | |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Basal ganglia calcification | 0002135 | |
| Bilateral microphthalmos |
Abnormally small eyeball on both sides
|
0007633 |
| Calvarial osteosclerosis | 0005450 | |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| 0008198 | ||
| Decreased skull ossification |
Decreased bone formation of skull
|
0004331 |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
| Hyperphosphatemia |
High blood phosphate levels
|
0002905 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypocalcemic |
Low calcium seizures
|
0002199 |
| Hypocalcemic tetany | 0003472 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Papilledema | 0001085 | |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Postnatal macrocephaly | 0005490 | |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Retinal calcification | 0007862 | |
| Thin long bone diaphyses |
Thin shaft of long bone
|
0006470 |
| 5%-29% of people have these symptoms | ||
| Developmental |
Clouding of the lens of the eye at birth
|
0000519 |
| High pitched voice | 0001620 | |
| Persistence of primary teeth |
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ]
|
0006335 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the medullary cavity of the long bones |
Abnormality of the marrow cavity of the long bones
|
0100253 |
| 0000006 | ||
| Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
| Hypoparathyroidism |
Decreased parathyroid hormone secretion
|
0000829 |
| Increased bone mineral density |
Increased bone density
|
0011001 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Seizure | 0001250 | |
| Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Thickened cortex of long bones | 0000935 | |
| Transient hypophosphatemia | 0008285 | |
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.
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.
