What is the abnormality of the outer ear?
Abnormality of the outer ear is an unusual or distinctive formation of the outer portion of the ear or one of its components, or an unusual location or placement of one or both ears.
The term ‘dysplastic’ is no longer in use as a descriptor for an ear with unusual formation, however, if you as a patient, parent or caregiver did hear it used in a conversation with a healthcare professional, do be sure to ask for a more specific anatomical description of the particular component of the ear before taking any further action.
Because there are so many distinct parts of the ears (inner, outer, and middle, and all their included components), it is important to clarify what is meant and which part is being described when the ear or any portion of it is considered abnormal in appearance or placement. Each type of abnormality of the outer ear can be an important indicator of underlying genetic diseases or syndromes. However, this diagnosis must be based on very specific and clear information about the abnormality, and it also depends on other accompanying features.
Understanding ear-related symptoms and features.
Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.
The ear is a part of the auditory system of the body. The auditory system includes the ear itself and its parts: the inner, middle and outer ear.
Symptoms affecting the ears may be congenital, present at birth, or they may develop later in life. Sometimes surgery may be an option to correct them.
Symptoms relating to the ears may affect their structure and function including their ability to hear, other times they may simply affect the shape or appearance of the ear without any impact on hearing.
What should I do next?
In some instances, abnormality of the outer ear may be one of the features of a rare disease or genetic syndrome. To find out if someone with Abnormality of the Outer Ear, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.