Syndromes
Atresia and microtia may be caused by an abnormality in a specific gene or set of genes. The abnormal gene may occur for the first time in affected patients or can be passed down from one or both parents. Although still not completely understood, advances in the genetic basis of the disease have greatly advanced in the recent past and will continue to do so into the next several decades.
There are several genetic syndromes identified for which Atresia Microtia is one part of a larger set of abnormalities. In some cases, other body systems are affected in addition to the ear. Evaluation by your medical team is designed to evaluate these other systems and rule out potential life-threatening conditions that can coincide with these syndromes. With further advancements in the understanding of Atresia-Microtia, the treatment team is able to better guide therapy, predict success of certain strategies and understand the chance of other children and future generations being affected by the same condition.
Further details of syndromes linked with AM are listed below.
| 1 | no syndrome |
| 2 | syndrome (named) |
A Pediatrician, Developmental Pediatrician or a Geneticist (usually found in major medical centers like ours) can determine if a syndrome exists. A listing of the syndromes we have found to be associated with Atresia Microtia in 8% of our patients is as follows:
- Treacher Collins
- Hemifacial Microsomia
- Goldenhar
- Crouzon’s
- Pfeiffer
- Apert
- Nager / Miller
- Klippel-Feil
- BOR (Branchio-Oto-Renal) also known as Melnick-Fraser
- Pierre Robin
- CHARGE syndrome
- Chromosome 18q- syndrome