Greig Cephalopolysyndactyly Syndrome (GCPS) is a rare genetic disorder characterized by a combination of craniofacial, limb, and digit abnormalities. It is caused by mutations in the GLI3 gene and follows an autosomal dominant inheritance pattern.
The prevalence of GCPS is estimated to be around 1 in 1,000,000 individuals worldwide. However, due to the rarity of the condition and the variability in its presentation, the exact prevalence may be difficult to determine accurately.
Individuals with GCPS typically exhibit craniofacial features such as a prominent forehead, widely spaced eyes, and a broad nasal bridge. Limb abnormalities may include fused or extra fingers or toes, as well as shortened or missing limbs. Intellectual disability is also commonly associated with GCPS, although the severity can vary.
Diagnosis of GCPS is usually based on clinical evaluation, medical history, and genetic testing. Management of the condition involves a multidisciplinary approach, including surgical interventions for limb abnormalities and supportive care for associated medical issues.
While GCPS is a rare disorder, early diagnosis and appropriate interventions can significantly improve the quality of life for affected individuals and their families.