Apert Syndrome synonyms
What other names are the Apert Syndrome known by? Synonyms and other terms with which Apert Syndrome is known.
Apert Syndrome, also known as acrocephalosyndactyly type 1, is a rare genetic disorder characterized by abnormal growth and development of the skull, face, hands, and feet. It is named after the French physician Eugène Apert, who first described the condition in the early 20th century.
Synonyms for Apert Syndrome include:
- Acrocephalosyndactyly type 1
- ACS1
- Apert-Crouzon syndrome
- Apert-FGFR2 syndrome
- Apert-Pfeiffer syndrome
- Apert syndrome with FGFR2 S252W mutation
- Apert syndrome with FGFR2 S252W mutation and mild phenotype
- Apert syndrome with FGFR2 S252W mutation and severe phenotype
- Apert syndrome with FGFR2 S252W mutation and variable phenotype
- Apert syndrome with FGFR2 S252W mutation and very mild phenotype
Individuals with Apert Syndrome typically have a characteristic appearance, including a high, prominent forehead, wide-set and bulging eyes, a beaked nose, and a small upper jaw. The condition also affects the hands and feet, causing fusion of the fingers and toes, known as syndactyly. Additionally, individuals may experience hearing loss, dental abnormalities, and developmental delays.
Apert Syndrome is caused by mutations in the FGFR2 gene, which plays a crucial role in the development of bones and connective tissues. These mutations result in the premature fusion of certain skull bones, leading to the characteristic features of the syndrome.
Treatment for Apert Syndrome often involves a multidisciplinary approach, addressing the various medical, surgical, and developmental needs of the individual. Surgical interventions may be required to correct craniofacial abnormalities, release fused fingers or toes, and manage other associated complications.
While Apert Syndrome is a lifelong condition, with appropriate medical care and support, individuals with the syndrome can lead fulfilling lives and achieve their full potential.
