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4 de abr. de 2018 · Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic ...
14 de mar. de 2019 · Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with...
Takenouchi-Kosaki syndrome. Suggest an update. Disease definition. A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion ...
Takenouchi-Kosaki Syndrome is a rare condition that causes mild ptosis, exotropia, and eversion of the lower eyelids, as well as retinal dysplasia, cardiac anomalies, lymphedema, and neurosensory hearing loss. It is caused by heterozygous missense mutations in the CDC42 gene and has no treatment.
14 de mar. de 2019 · In the present report, we showed that Takenouchi-Kosaki syndrome is a clinically recognizable condition characterized by a combination of macrothrombocytopenia, intellectual disability, sensorineural hearing loss with structural brain abnormalities, camptodactyly, and frequent infections and decreased CD19-positive cells.
2 de mar. de 2021 · Takenouchi–Kosaki syndrome (OMIM #616737), also known as Macrothrombocytopenia and Mental Retardation (MMR) syndrome, is an autosomal dominant, clinically heterogeneous disorder, characterized by multi‐systemic involvement, and developmental delay. 1 , 2 The syndrome first described in 2015, is associated with heterozygous pathogenic variants in...
9 de sept. de 2021 · Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys variant (Y64C) causes intellectual and growth delay, dysmorphism, lymphedema in the lower extremities, camptodactyly and...
