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)|
|Preauricular skin tag||90%|
|Abnormal form of the vertebral bodies||50%|
|Abnormality of the inner ear||50%|
|Abnormality of the middle ear||50%|
|Atresia of the external auditory canal||50%|
|Low-set, posteriorly rotated ears||50%|
|Neurological speech impairment||50%|
|Non-midline cleft lip||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of the pharynx||7.5%|
|Abnormality of the ribs||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Aplasia/Hypoplasia of the corpus callosum||7.5%|
|Aplasia/Hypoplasia of the lungs||7.5%|
|Aplasia/Hypoplasia of the thumb||7.5%|
|Cerebral cortical atrophy||7.5%|
|Tetralogy of Fallot||7.5%|
|Ventricular septal defect||7.5%|
|Vertebral segmentation defect||7.5%|
|Agenesis of corpus callosum||-|
|Autosomal dominant inheritance||-|
|Cleft upper lip||-|
|Coarctation of aorta||-|
|Conductive hearing impairment||-|
|Hypoplasia of facial musculature||-|
|Hypoplasia of the maxilla||-|
|Multicystic kidney dysplasia||-|
|Patent ductus arteriosus||-|
|Sensorineural hearing impairment||-|
|Unilateral external ear deformity||-|
|Upper eyelid coloboma||-|
|Ureteropelvic junction obstruction||-|
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 environmental factors may be involved.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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