What is Gorlin-Chaudhry-Moss Syndrome

Gorlin-Chaudhry-Moss Syndrome (GCMS) is a rare genetic disorder that affects various parts of the body. It is characterized by distinct facial features, skeletal abnormalities, and developmental delays.

Facial features: Individuals with GCMS often have a prominent forehead, widely spaced eyes, downward-slanting eyelid openings, a small nose with a broad bridge, and a thin upper lip.

Skeletal abnormalities: These can include fusion of certain bones in the skull, abnormal curvature of the spine (scoliosis), and extra fingers or toes (polydactyly).

Developmental delays: Children with GCMS may experience delays in reaching developmental milestones such as sitting, crawling, and walking. Intellectual disability can also be present.

GCMS is caused by mutations in the PORCN gene, which plays a role in embryonic development. It is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to be affected.

Diagnosis of GCMS involves a thorough clinical evaluation, genetic testing, and imaging studies. Treatment focuses on managing the symptoms and may involve a multidisciplinary approach with specialists in genetics, orthopedics, and developmental pediatrics.