Orpha Number: 35107
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 | ||
Absent septum pellucidum | 0001331 | |
Agenesis of |
0001274 | |
Bifid uvula | 0000193 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Small lower jaw
Little lower jaw
Small jaw
[ more ]
|
0000347 | |
Muscle stiffness | 0003552 | |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Rigidity |
Muscle rigidity
|
0002063 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Submucous cleft hard palate | 0000176 | |
30%-79% of people have these symptoms | ||
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 |
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
Low-set, posteriorly rotated ears | 0000368 | |
Narrow mouth |
Small mouth
|
0000160 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Ventriculomegaly | 0002119 | |
5%-29% of people have these symptoms | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
Anomalous pulmonary venous return | 0010772 | |
Dermal atrophy |
Skin degeneration
|
0004334 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Prominent eye folds
Eye folds
[ more ]
|
0000286 |
Frontal bossing | 0002007 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Intestinal malrotation | 0002566 | |
Macrocephaly |
Increased size of skull
Large head circumference
Large head
[ more ]
|
0000256 |
Macrogyria | 0007227 | |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Osteopetrosis |
Harder, denser, fracture-prone bones
|
0011002 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Patent ductus arteriosus | 0001643 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
Splenomegaly |
Increased spleen size
|
0001744 |
Talipes | 0001883 | |
1%-4% of people have these symptoms | ||
Abnormal circulating cholesterol concentration |
Abnormality of cholesterol metabolism
|
0003107 |
Alveolar ridge overgrowth |
Overgrowth of gum ridge
|
0009085 |
Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
Aplasia/Hypoplasia of the corpus callosum | 0007370 | |
Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 |
Cleft roof of mouth
|
0000175 | |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ]
|
0000378 |
Generalized osteosclerosis | 0005789 | |
Gingival fibromatosis | 0000169 | |
Global |
0001263 | |
Hypoplastic nasal bridge |
Decreased size of nasal bridge
Small bridge of nose
Small nasal bridge
[ more ]
|
0005281 |
Joint |
0009473 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
Total anomalous pulmonary venous return | 0005160 | |
Percent of people who have these symptoms is not available through HPO | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Arthrogryposis multiplex congenita | 0002804 | |
0000007 | ||
Partial agenesis of the corpus callosum | 0001338 | |
Relative macrocephaly |
Relatively large head
|
0004482 |
0001250 |
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.
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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