Temtamy–Shalash syndrome

Temtamy–Shalash syndrome is a rare genetic disorder characterized by a range of physical and developmental anomalies. First identified by Temtamy and Shalash in 1969, this syndrome has since been a subject of interest in the field of genetics and pediatrics. The syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms and Characteristics

The hallmark features of Temtamy–Shalash syndrome include intellectual disability, growth retardation, and distinctive facial features. These facial features often encompass a broad nose, deep-set eyes, and a prominent forehead. Other physical anomalies associated with the syndrome may include brachydactyly (shortening of the fingers and toes), syndactyly (fusion of the fingers or toes), and various skeletal abnormalities.

Genetics

The genetic basis of Temtamy–Shalash syndrome involves mutations in a specific gene, although the exact gene associated with the syndrome has not been conclusively identified. The disorder follows an autosomal recessive pattern of inheritance. This means that for a child to be affected by the syndrome, they must inherit one mutated gene from each parent. Parents of an affected child are typically carriers of the syndrome but do not show symptoms themselves.

Diagnosis

Diagnosis of Temtamy–Shalash syndrome is primarily based on the clinical presentation and physical findings. Genetic testing may be utilized to confirm the diagnosis, especially in cases where the clinical presentation is ambiguous. Early diagnosis is crucial for the management of the syndrome and to provide appropriate genetic counseling to the affected families.

Management and Treatment

There is no cure for Temtamy–Shalash syndrome, and treatment is symptomatic and supportive. Management strategies may include physical therapy, special education programs, and other interventions aimed at improving the quality of life of affected individuals. Surgical interventions may be necessary to correct certain physical anomalies such as syndactyly.

Prognosis

The prognosis for individuals with Temtamy–Shalash syndrome varies depending on the severity of the symptoms and the presence of associated complications. With appropriate management and supportive care, individuals with the syndrome can lead a relatively normal life.

Research

Research on Temtamy–Shalash syndrome is ongoing, with studies focusing on identifying the genetic mutations responsible for the syndrome and understanding the mechanism of disease. Advances in genetic research may offer new insights into the syndrome and potential therapeutic targets in the future.

Temtamy–Shalash syndrome Resources
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