GuilleminSternberg

Guillemin-Sternberg syndrome is a rare genetic disorder characterized by a combination of congenital anomalies and developmental delays. It is named after the two physicians who first described the condition: Dr. Jean-Pierre Guillemin and Dr. Michael Sternberg. The syndrome is typically associated with mutations in the *ZNF469* gene, which plays a critical role in early embryonic development.

Individuals with Guillemin-Sternberg syndrome often exhibit a distinctive facial appearance, including a broad nasal bridge, a short upturned nose, and widely spaced eyes (hypertelorism). Other common features include intellectual disability, growth retardation, and skeletal abnormalities such as limb malformations or polydactyly (extra fingers or toes). Some affected individuals may also have cardiac defects, renal anomalies, or hearing loss.

The syndrome follows an autosomal dominant inheritance pattern, meaning that an affected individual typically inherits a mutated gene from one parent. However, it can also arise from a spontaneous mutation in the absence of a family history. Diagnosis is often confirmed through genetic testing, which identifies mutations in the *ZNF469* gene.

Management of Guillemin-Sternberg syndrome focuses on addressing the specific symptoms and complications associated with the condition. This may include physical therapy for developmental delays, surgical interventions for congenital anomalies, and specialized educational support for intellectual disabilities. Early intervention and multidisciplinary care are essential for improving quality of life.

Research into Guillemin-Sternberg syndrome remains limited due to its rarity, but ongoing genetic studies aim to better understand its mechanisms and potential therapeutic targets. Awareness of the syndrome is important for accurate diagnosis and appropriate management in clinical settings.