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 | ||
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Feeding difficulties in infancy | 0008872 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
|
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 | |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Severe global |
0011344 | |
| Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ]
|
0008850 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| 30%-79% of people have these symptoms | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ]
|
0001838 |
| Severe intrauterine growth retardation |
Severe prenatal growth deficiency
|
0008846 |
| 5%-29% of people have these symptoms | ||
| Abnormal lung lobation | 0002101 | |
| Abnormality of cardiovascular system morphology | 0030680 | |
| Oral cleft |
Cleft of the mouth
|
0000202 |
|
Seizure
|
0001250 | |
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal joint morphology |
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints
[ more ]
|
0001367 |
| 0000007 | ||
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
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 diagnosis includes trisomy 18, COFS syndrome and fetal akinesia deformation sequence. Other conditions with macrocephaly and severe growth and developmental delay such as chromosome breakage disorders, DNA damage repair disorders, macrocephalic primordial dwarfisms and certain forms of carbohydrate deficient glycoprotein syndromes may also show some overlap.
Visit the
Orphanet disease page
for more information.
|
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.
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