Zeichi-Ceide syndrome

Zeichi-Ceide syndrome (ZCS) is a rare genetic disorder discovered in 2007 and named after its discoverer, R.M. Zeichi-Ceide. It is characterized by a combination of features including developmental delay, intellectual disability, distinctive facial features, skeletal abnormalities, and other health issues.

Common Features:

• Developmental Delay and Intellectual Disability: Children with ZCS often experience delays in achieving developmental milestones such as sitting, standing, and walking. They may also have intellectual disabilities ranging from mild to severe.
• Distinctive Facial Features: Individuals with ZCS may have facial characteristics that are recognizable within the syndrome, such as a prominent forehead, widely spaced eyes (hypertelorism), a broad nasal bridge, a small jaw (micrognathia), and low-set ears.
• Skeletal Abnormalities: Skeletal abnormalities may include short stature, joint laxity, and abnormalities of the bones in the fingers and toes (digits).
• Heart Defects: Some individuals with ZCS may have congenital heart defects, such as atrial septal defects (ASDs) or ventricular septal defects (VSDs).
• Other Health Issues: Additional health problems associated with ZCS may include hearing loss, vision problems, and abnormalities of the gastrointestinal system.

Zeichi-Ceide syndrome is caused by mutations in the KDM1A gene, which plays a role in regulating gene expression during development. This gene is located on chromosome 1. The inheritance pattern of ZCS is autosomal dominant, meaning that a mutation in one copy of the KDM1A gene is sufficient to cause the disorder.

Management of Zeichi-Ceide syndrome typically involves a multidisciplinary approach that may include early intervention services, educational support, physical therapy, occupational therapy, speech therapy, and management of any specific health issues that arise.