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 | ||
| Disproportionate tall stature | 0001519 | |
| High forehead | 0000348 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Nasal speech |
Nasal voice
|
0001611 |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
| 0002650 | ||
| 30%-79% of people have these symptoms | ||
| Aplasia/Hypoplasia of the |
0007370 | |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Macroorchidism |
Large testis
|
0000053 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Short philtrum | 0000322 | |
| 5%-29% of people have these symptoms | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
|
Short fingers or toes
|
0001156 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Hallucinations |
Hallucination
Sensory hallucination
[ more ]
|
0000738 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Psychosis | 0000709 | |
| Schizophrenia | 0100753 | |
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the |
0000119 | |
| Abnormality of the rib cage | 0001547 | |
| Abnormally folded helix | 0008544 | |
| Agenesis of corpus callosum | 0001274 | |
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
| Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 |
| 0000717 | ||
| Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
| Deep philtrum | 0002002 | |
| Emotional lability |
Emotional instability
|
0000712 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Frontal bossing | 0002007 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hyperactivity |
More active than typical
|
0000752 |
| Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ]
|
0000735 |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ]
|
0003189 |
| Low frustration tolerance | 0000744 | |
| Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ]
|
0000446 |
| Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| 0001419 | ||
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 the fragile X syndrome (molecular analysis of the FMR-1 gene), Marfan syndrome (cardiac and ophthalmologic examination) (see these terms), and homocystinuria (biochemical analysis). Lujan-Fryns syndrome should be considered in the differential diagnosis of schizophrenia.
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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