ühiskordsete

Ühiskordsete refers to a rare genetic disorder characterized by a specific set of congenital anomalies. The term originates from Estonian, combining "ühiskond" (society) and "kord" (order), possibly reflecting the observed phenotypic variations within affected individuals or families.

The syndrome is primarily associated with mutations in the KMT2E gene, which plays a crucial role in gene regulation during embryonic development. Symptoms can vary widely, but commonly include distinctive facial features such as a broad nasal bridge, a short philtrum, and thin upper lips. Intellectual disability, ranging from mild to severe, is also a frequent manifestation. Other potential features can involve developmental delays, growth retardation, and sometimes skeletal abnormalities.

Diagnosis is typically made based on clinical observation of the characteristic features and confirmed through genetic testing to identify pathogenic variants in the KMT2E gene. There is no cure for ühiskordsete, and management focuses on supportive care to address the specific symptoms and challenges faced by affected individuals. This may involve therapies such as speech, occupational, and physical therapy, as well as educational support. Research into the underlying mechanisms and potential therapeutic targets is ongoing.