Tsukahara–Kajii syndrome

Tsukahara–Kajii Syndrome

Tsukahara–Kajii syndrome is a rare genetic disorder characterized by a combination of congenital anomalies and developmental delay. It was first described by Tsukahara and Kajii in 1980. The syndrome is associated with chromosomal abnormalities, specifically involving the chromosome 3q region.

Clinical Features

Patients with Tsukahara–Kajii syndrome typically present with a variety of clinical features, which may include:

• Microcephaly
• Growth retardation
• Facial dysmorphism
• Cleft palate
• Congenital heart defects
• Developmental delay
• Intellectual disability

The severity and combination of symptoms can vary significantly among affected individuals.

Genetic Basis

Tsukahara–Kajii syndrome is associated with chromosomal abnormalities involving the 3q region. The specific genetic changes can include deletions, duplications, or other rearrangements affecting this part of the chromosome. These genetic alterations disrupt the normal function of genes located in this region, leading to the clinical manifestations of the syndrome.

Diagnosis

Diagnosis of Tsukahara–Kajii syndrome is based on clinical evaluation and genetic testing. Cytogenetic analysis can identify chromosomal abnormalities, while more detailed molecular genetic testing can pinpoint specific genetic changes. Genetic counseling is recommended for affected families.

Management

There is no cure for Tsukahara–Kajii syndrome, and treatment is primarily supportive and symptomatic. Management may involve:

• Early intervention programs for developmental support
• Speech therapy
• Physical therapy
• Occupational therapy
• Surgical correction of congenital anomalies, such as cleft palate repair
• Regular monitoring and management of cardiac defects

Prognosis

The prognosis for individuals with Tsukahara–Kajii syndrome varies depending on the severity of symptoms and associated complications. Early intervention and supportive care can improve quality of life and developmental outcomes.

Epidemiology

Tsukahara–Kajii syndrome is considered a rare disorder, with only a limited number of cases reported in the medical literature. The exact prevalence is unknown.

Also see

• Chromosomal disorder
• Congenital anomaly
• Developmental delay
• Genetic counseling

References

• Tsukahara, M., & Kajii, T. (1980). A new syndrome with multiple congenital anomalies and developmental delay. Journal of Medical Genetics.
• Additional references from peer-reviewed journals and textbooks on genetic disorders.

NIH genetic and rare disease info

• NIH info on Tsukahara–Kajii syndrome

Tsukahara–Kajii syndrome is a rare disease.

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