Antley Bixler Syndrome, also known as ABS, is a rare genetic disorder that affects multiple systems in the body. It is characterized by distinctive facial features, skeletal abnormalities, and various other medical complications. While ABS is the commonly used term, there are a few other synonyms or alternative names that are sometimes used to refer to this condition.
1. Trigonocephaly-synostosis syndrome: This term is used to describe the characteristic craniofacial abnormality seen in individuals with ABS. Trigonocephaly refers to the premature fusion of the metopic suture in the skull, resulting in a triangular-shaped forehead.
2. Craniosynostosis-mental retardation syndrome: ABS is often associated with craniosynostosis, which is the premature fusion of one or more cranial sutures. This can lead to an abnormal head shape and potential developmental delays, hence the inclusion of "mental retardation" in the alternative name.
3. Antley-Rixen syndrome: This name is derived from the two physicians who first described the condition in medical literature. Dr. Gary Antley and Dr. David Rixen identified the syndrome in the early 1980s and published their findings, leading to the recognition of ABS as a distinct disorder.
4. Antley-Bixler-like syndrome: Occasionally, this term is used to describe conditions that share some similarities with ABS but may not meet all the diagnostic criteria. It is used when individuals exhibit features resembling ABS but do not have all the characteristic findings.
While these alternative names are sometimes used, it is important to note that "Antley Bixler Syndrome" remains the most widely recognized and accepted term for this condition. The use of these synonyms may vary among medical professionals and researchers, but they all refer to the same rare genetic disorder characterized by craniofacial and skeletal abnormalities.