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 |
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cafe-au-lait spot | 0000957 | |
Curly hair | 0002212 | |
Decreased circulating IgA level | 0002720 | |
Deep palmar crease |
Deep palm line
|
0006191 |
Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
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 |
Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Frontal bossing | 0002007 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hemimegalencephaly | 0007206 | |
High forehead | 0000348 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Low blood sugar
|
0001943 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Long philtrum | 0000343 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
Perisylvian polymicrogyria | 0012650 | |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
Seizure
|
0001250 | |
Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Short proximal phalanx of finger |
Short innermost finger bones
|
0010241 |
Smooth philtrum | 0000319 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Low platelet count
|
0001873 | |
Umbilical hernia | 0001537 | |
Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
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.
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.