Taybi–Linder syndrome

Taybi-Linder syndrome (TALS), also known as Cerebrooculofacioskeletal syndrome 3 (COFS3), is a rare genetic disorder characterized by severe growth retardation and abnormalities affecting the brain, eyes, face, and skeletal system. It is named after the physicians Hooshang Taybi and Marshall Linder, who first described the condition in 1967.

Symptoms and Signs

The symptoms of Taybi-Linder syndrome are present from birth and can vary widely in severity. They include microcephaly (abnormally small head size), micrognathia (small jaw), microphthalmia (small eyes), and skeletal dysplasia (abnormal bone development). Other features can include intellectual disability, seizures, respiratory problems, and feeding difficulties.

Causes

Taybi-Linder syndrome is caused by mutations in the RNU4ATAC gene. This gene provides instructions for making a small nuclear RNA (snRNA) that is involved in the processing of other RNAs. Mutations in the RNU4ATAC gene disrupt this process, leading to the production of abnormal proteins and the wide variety of symptoms seen in Taybi-Linder syndrome.

Diagnosis

Diagnosis of Taybi-Linder syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing to identify mutations in the RNU4ATAC gene.

Treatment

There is currently no cure for Taybi-Linder syndrome. Treatment is supportive and based on the symptoms present in each individual. This can include physical therapy for motor difficulties, speech therapy for communication problems, and special education services for intellectual disability.

Prognosis

The prognosis for individuals with Taybi-Linder syndrome is generally poor, with most affected individuals not surviving past infancy or early childhood. However, with appropriate supportive care, some individuals may live into adolescence or adulthood.

See Also

• Genetic disorder
• Microcephaly
• Micrognathia
• Microphthalmia
• Skeletal dysplasia

NIH genetic and rare disease info

• NIH info on Taybi–Linder syndrome

Taybi–Linder syndrome is a rare disease.

Taybi–Linder syndrome Resources
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