Orpha Number: 263508
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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormal macular morphology | 0001103 | |
| Atrial septal dilatation | 0011995 | |
| Butterfly vertebrae | 0003316 | |
| Cerebellar vermis hypoplasia | 0001320 | |
| Enlarged cisterna magna | 0002280 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Irregularity of vertebral bodies | 0004582 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| Osteopenia | 0000938 | |
| Pierre-Robin sequence | 0000201 | |
| Posterior rib gap | 0030282 | |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| Rib fusion |
Fused ribs
|
0000902 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short neck |
Decreased length of neck
|
0000470 |
| Smooth philtrum | 0000319 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Type II transferrin isoform profile | 0012301 | |
| 5%-29% of people have these symptoms | ||
| Broad neck |
Increased width of neck
Wide neck
[ more ]
|
0000475 |
| Cerebellar dysplasia | 0007033 | |
| Coxa valga | 0002673 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Flat acetabular roof | 0003180 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
|
Enlarged liver and spleen
|
0001433 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Kyphoscoliosis | 0002751 | |
| Long philtrum | 0000343 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Mild global |
0011342 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Progressive |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ]
|
0000253 |
| Temporal cortical atrophy | 0007112 | |
| Vertebral segmentation defect | 0003422 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 1%-4% of people have these symptoms | ||
|
Cleft roof of mouth
|
0000175 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal isoelectric focusing of serum transferrin | 0003160 | |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| 0000007 | ||
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Delayed ability to walk | 0031936 | |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Global developmental delay | 0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hydronephrosis | 0000126 | |
| Hypospadias | 0000047 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
| Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
| 0002650 | ||
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Small hand |
Disproportionately small hands
|
0200055 |
|
Low platelet count
|
0001873 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
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.
