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Which are the symptoms of Gorlin-Chaudhry-Moss Syndrome?

See the worst symptoms of affected by Gorlin-Chaudhry-Moss Syndrome here

Gorlin-Chaudhry-Moss Syndrome symptoms

Gorlin-Chaudhry-Moss Syndrome (GCMS) is a rare genetic disorder that affects various parts of the body. It is characterized by a combination of distinctive facial features, skeletal abnormalities, and other developmental issues. GCMS is caused by mutations in the GLI3 gene, which plays a crucial role in embryonic development.



Facial features: Individuals with GCMS often have unique facial characteristics. These may include a prominent forehead, widely spaced eyes (hypertelorism), downward slanting eyelid openings (palpebral fissures), a small nose with a broad nasal bridge, and a small mouth with thin lips. The ears may be low-set and abnormally shaped.



Skeletal abnormalities: GCMS can affect the bones and joints, leading to various skeletal abnormalities. These may include craniosynostosis, a condition in which the bones of the skull fuse prematurely, resulting in an abnormal head shape. Other skeletal features may include a small or absent kneecap (patella), short fingers and toes (brachydactyly), and fusion of certain bones in the spine (vertebral anomalies).



Developmental issues: Individuals with GCMS may experience developmental delays and intellectual disability. They may have difficulties with speech and language development, as well as learning disabilities. Some individuals may also exhibit behavioral problems, such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD).



Other features: Additional features of GCMS may include abnormalities of the skin, such as dry and scaly skin or excessive hair growth (hypertrichosis). Some individuals may have dental abnormalities, such as missing or misshapen teeth. Vision and hearing problems can also occur in some cases.



It is important to note that the severity and specific symptoms of GCMS can vary widely among affected individuals. Some individuals may have mild manifestations of the syndrome, while others may have more pronounced features and developmental challenges.



Diagnosis of GCMS is typically based on clinical evaluation, including a thorough examination of the individual's physical features and medical history. Genetic testing can confirm the presence of GLI3 gene mutations, further supporting the diagnosis.



Management of GCMS involves a multidisciplinary approach, addressing the specific needs of each individual. This may include early intervention and therapies to support developmental progress, educational support, and regular monitoring of associated health issues. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and potential risks for future generations.


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