What is Cerebrocostomandibular Syndrome

Cerebrocostomandibular Syndrome (CCMS) is a rare genetic disorder that affects the development of the brain, ribs, and jaw. It is characterized by a combination of craniofacial abnormalities and skeletal malformations. Individuals with CCMS may have a small head size (microcephaly), intellectual disability, facial asymmetry, cleft palate, and a small lower jaw (micrognathia). The ribs may be fused together or missing, leading to breathing difficulties and chest abnormalities. CCMS is caused by mutations in the SF3B4 gene and is inherited in an autosomal recessive manner.

Diagnosis of CCMS is typically based on clinical features, medical imaging, and genetic testing. Treatment options for CCMS are mainly supportive and aim to manage the specific symptoms and complications associated with the disorder. This may include interventions such as speech therapy, orthodontic treatment, feeding assistance, and respiratory support if necessary.

Due to the rarity of CCMS, it is important for individuals with this condition and their families to seek medical advice from healthcare professionals experienced in managing genetic disorders. Ongoing research and advancements in genetic testing may provide further insights into the management and potential treatments for CCMS in the future.