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 | ||
| 0008198 | ||
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 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 |
| External ear malformation | 0008572 | |
| High forehead | 0000348 | |
| Hyperphosphatemia |
High blood phosphate levels
|
0002905 |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Long philtrum | 0000343 | |
| Low-set, posteriorly rotated ears | 0000368 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| 0001250 | ||
| Severe intrauterine growth retardation |
Severe prenatal growth deficiency
|
0008846 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Small hand |
Disproportionately small hands
|
0200055 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| 30%-79% of people have these symptoms | ||
| Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| 5%-29% of people have these symptoms | ||
| Aplasia/Hypoplasia affecting the eye |
Absent/small eye
Absent/underdeveloped eye
[ more ]
|
0008056 |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| Cellular |
0005374 | |
| Corneal opacity | 0007957 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ]
|
0005214 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Patchy osteosclerosis |
Uneven increase in bone density
|
0005686 |
| Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Bifid uvula | 0000193 | |
| Delayed myelination | 0012448 | |
| Frontal bossing | 0002007 | |
| Growth |
0000824 | |
| Hypocalcemic seizures |
Low calcium seizures
|
0002199 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
|
0002718 |
| Short palm | 0004279 | |
| Tetany |
Intermittent involuntary muscle spasm
|
0001281 |
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.
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.
