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||
|80%-99% of people have these symptoms|
Pit in front of the ear
|Preauricular skin tag||0000384|
|30%-79% of people have these symptoms|
|Abnormal localization of kidney||
Abnormal localisation of kidneys
|Abnormality of cardiovascular system morphology||0030680|
|Abnormality of the ribs||
Birth defect that causes a hole in the innermost layer at the back of the eye
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Widely spaced eyes[ more ]
|Intellectual disability, mild||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Low or weak muscle tone
Absent/underdeveloped kidney[ more ]
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the genital system||
Genital defects[ more ]
Hearing defect[ more ]
Abnormally small eyeball
|Percent of people who have these symptoms is not available through HPO|
|Abnormal heart morphology||
Abnormality of the heart
Abnormally shaped heart
Heart defect[ more ]
Missing outer large bone of forearm
Cleft roof of mouth
Growth issue[ more ]
Low set ears
Lowset ears[ more ]
Little lower jaw
Small lower jaw[ more ]
Missing kidney[ more ]
|Stenosis of the external auditory canal||
Narrowing of passageway from outer ear to middle ear
|Total anomalous pulmonary venous return||0005160|
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 other chromosomal disorders with overlapping phenotypes such as CHARGE syndrome and VACTERL/VATER association (see these terms).
Visit the Orphanet disease page for more information.
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.