Katsantoni–Papadakou–Lagoyanni syndrome

Katsantoni–Papadakou–Lagoyanni syndrome, also known as Cerebro-Costo-Mandibular syndrome (CCMS), is a rare genetic disorder characterized by distinctive abnormalities and malformations in the brain, rib cage, and jaw. This syndrome was first described by Katsantoni, Papadakou, and Lagoyanni, after whom the syndrome is named, highlighting their significant contribution to the understanding of this rare condition.

Symptoms and Characteristics

The primary features of Katsantoni–Papadakou–Lagoyanni syndrome include severe micrognathia (a condition where the jaw is significantly smaller than normal), posterior rib-gap defects (gaps in the ribs at the back), and developmental delay. Individuals with this syndrome may also exhibit respiratory difficulties, feeding problems, and a high-pitched cry. The severity of symptoms can vary widely among affected individuals.

Genetics

Katsantoni–Papadakou–Lagoyanni syndrome is believed to be inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of Katsantoni–Papadakou–Lagoyanni syndrome is primarily based on the clinical presentation and physical findings. Genetic testing may help in confirming the diagnosis, although the specific genes associated with this syndrome may not be well-defined due to its rarity.

Treatment

There is no cure for Katsantoni–Papadakou–Lagoyanni syndrome. Treatment is symptomatic and supportive. Management may include interventions to assist with breathing and feeding difficulties, surgical procedures to address physical malformations, and therapies to support developmental progress.

Prognosis

The prognosis for individuals with Katsantoni–Papadakou–Lagoyanni syndrome varies depending on the severity of symptoms and the presence of life-threatening complications, such as respiratory distress. Early intervention and supportive care can improve the quality of life for those affected.

Katsantoni–Papadakou–Lagoyanni syndrome Resources
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