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 | ||
Agenesis of |
0001274 | |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
|
0000528 |
Anotia | 0009892 | |
Arnold-Chiari malformation | 0002308 | |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Block vertebrae | 0003305 | |
Branchial anomaly | 0009794 | |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ]
|
0000086 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
Hemifacial hypoplasia |
Decreased size of half of the face
Decreased size of one side of the face
[ more ]
|
0011332 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of facial musculature |
Decreased size of facial muscles
Deficiency of facial musculature
Underdevelopment of facial muscles
[ more ]
|
0004660 |
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 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Limbal dermoid | 0001140 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Multicystic kidney dysplasia | 0000003 | |
Occipital encephalocele |
Brain tissue sticks out through back of skull
|
0002085 |
Patent ductus arteriosus | 0001643 | |
Preauricular skin tag | 0000384 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
Sensorineural hearing impairment | 0000407 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Tetralogy of Fallot | 0001636 | |
Unilateral external ear deformity |
Deformed external ear on one side
|
0008605 |
Upper eyelid coloboma |
Cleft upper eyelid
Notched upper eyelid
[ more ]
|
0000636 |
Ureteropelvic junction obstruction | 0000074 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Vertebral hypoplasia |
Underdeveloped vertebrae
|
0008417 |
Vesicoureteral reflux | 0000076 | |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
In some affected families, people seem to inherit an increased risk of developing hemifacial microsomia, not the condition itself. In these cases, some combination of genetic changes and
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.
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
So I was wondering who do I consult about this? An orthodontist? And how do they treat this? See answer
I have hemifacial microsomia. What are the main causes of this condition? See answer