Temtamy syndrome

Temtamy syndrome (also known as Temtamy preaxial brachydactyly syndrome) is an extremely rare autosomal recessive genetic disorder first described by Professor Samia Temtamy. It is characterized by the combination of craniofacial dysmorphism, skeletal abnormalities, and eye anomalies. The condition is caused by mutations in the C12orf57 gene (also known as GRCC10), which plays a role in brain and eye development. Key clinical features include corpus callosum abnormalities (agenesis or hypoplasia), intellectual disability, seizures, and distinctive craniofacial features such as a flat face, hypertelorism, and low-set ears. Ocular findings are prominent and may include coloboma, microphthalmia, and other structural eye anomalies. Skeletal manifestations include preaxial brachydactyly (shortening of the thumb-side digits) and other hand and foot malformations. Affected individuals frequently present with developmental delay and variable degrees of intellectual disability. There is currently no cure or disease-specific treatment for Temtamy syndrome. Management is supportive and symptomatic, involving a multidisciplinary team including neurologists, ophthalmologists, orthopedic specialists, and developmental therapists. Seizure management with antiepileptic medications, early intervention programs for developmental delay, and corrective measures for skeletal or ocular abnormalities may be employed. The syndrome has been reported predominantly in consanguineous families, particularly from the Middle East and North Africa.

Common questions about Temtamy syndrome