Pfeifer syndrome occurs whenever sutures in the skull close prematurely, thereby hampering brain development. This may result in an abnormally shaped skull and facial features, in addition to hampering brain development. Multiple operations are typically needed to correct this disorder and prevent future health problems from occurring.

Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as …

2023年7月12日 · Pfeiffer syndrome is a genetic condition where joints (sutures) in a child’s skull close before the baby’s brain finishes growing. This leads the shape of the child’s head to grow abnormally. Characteristics of Pfeiffer syndrome include broad thumbs and big toes, a high forehead and wide-set eyes.

Pfeiffer syndrome, also known as acrocephalosyndactyly Type V, is a genetic disorder characterized by the anomalies of the skull, face, and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand, and foot bones. Craniofacial differences are similar to those seen in Apert syndrome.

Pfeiffer syndrome (PS) is a specific type of craniofacial dysostosis characterized by premature fusion of cranial and facial sutures, accompanied by enlarged thumbs and toes (with or without clinodactylies), and incomplete syndactyly of both hands and feet. 1–3 PS is recognized as the most severe phenotype of syndromic craniosynostosis. 4

Diagnosing Pfeiffer Syndrome. Doctors rarely diagnose Pfeiffer before birth. If a parent has the gene for Pfeiffer syndrome, a prenatal ultrasound may reveal if the baby has any syndromic features. But in most cases, the doctor will only notice if the baby has Pfeiffer when they're born.

2023年6月28日 · FGFRs are involved in human development before and after birth. Pfeiffer syndrome results from a mutation in FGFR1 or FGFR2. It is most commonly a result of FGFR2 mutations. Pfeiffer syndrome may be inherited from either parent carrying the mutated gene. There is a 50% risk of an affected parent passing the mutated gene to a child.

Pfeiffer syndrome is a rare genetic condition affecting primarily the skull and facial bones. It leads to craniosynostosis involving multiple cranial sutures and underdevelopment of the facial bones. Studies have shown that Pfeiffer syndrome occurs in approximately 1 in 100,000 births.

In Pfeiffer syndrome, the coronal, lambdoid and sagittal sutures fuse before birth. Pfeiffer syndrome can be regarded as a spectrum disorder, in that the signs and symptoms vary from mild to severe. Doctors tend to categorise Pfeiffer syndrome into three groups according to severity:

Pfeiffer Syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), leading to distinctive facial features and potentially affecting other areas of the body, including the hands and feet.