The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Atresia of the external auditory canal||-|
|Cleft upper lip||-|
|Coarctation of aorta||-|
|Conductive hearing impairment||-|
|Hypoplasia of facial musculature||-|
|Hypoplasia of the maxilla||-|
|Multicystic kidney dysplasia||-|
|Patent ductus arteriosus||-|
|Preauricular skin tag||-|
|Sensorineural hearing impairment||-|
|Tetralogy of Fallot||-|
|Unilateral external ear deformity||-|
|Upper eyelid coloboma||-|
|Ureteropelvic junction obstruction||-|
|Ventricular septal defect||-|
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
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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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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