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||
|Percent of people who have these symptoms is not available through HPO|
|Abnormal cardiac septum morphology||0001671|
|Abnormality of cardiovascular system morphology||0030680|
|Abnormality of the larynx||0001600|
|Abnormality of the pinna||
Abnormally shaped ears
Simple ears[ more ]
|Anteriorly placed anus||0001545|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
Narrow opening between the eyelids
Short fingers or toes
Disease of the heart muscle
Underdeveloped cerebellum[ more ]
Permanent curving of the finger
Undescended testis[ more ]
|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 ]
|Downturned corners of mouth||
Downturned corners of the mouth
Downturned mouth[ more ]
Increased size of cheeks
Large cheeks[ more ]
Decreased muscle tone
Low muscle tone[ more ]
Widely spaced eyes[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Little lower jaw
Small lower jaw[ more ]
Low or weak muscle tone
Low chest circumference
Narrow shoulders[ more ]
|Neonatal respiratory distress||
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal[ more ]
|Patent ductus arteriosus||0001643|
|Proximal placement of thumb||
Attachment of thumb close to wrist
Drooping upper eyelid
|Redundant neck skin||
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck[ more ]
Difficulty breathing[ more ]
Decreased length of neck
Decreased length of nose
Shortened nose[ more ]
|Short palpebral fissure||
Short opening between the eyelids
Webbed fingers or toes
Corners of eye widely separated
Narrowing of windpipe
|Wide anterior fontanel||
Wider-than-typical soft spot of skull
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
There are few conditions which include the combination of abnormalities of the corpus callosum and Pierre-Robin sequence. Two such conditions are Aicardi syndrome (in which Robin anomaly is a rare occurrence) and TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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. Submit a new question
My daughter has been diagnosed with Toriello-Carey syndrome. I would like to know as much as possible about this condition, including the associated prognosis. See answer