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4 de abr. de 2018 · Takenouchi-Kosaki syndrome is a rare autosomal dominant condition caused by mutations in the CDC42 gene. It affects multiple organ systems and causes developmental delay, dysmorphic features, hematologic and lymphatic defects, and other abnormalities.
Takenouchi-Kosaki syndrome is a rare congenital anomalies/dysmorphic syndrome with intellectual disability and multiple abnormalities. Learn about its definition, inheritance, prevalence, and available resources on Orphanet.
14 de mar. de 2019 · Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural...
14 de mar. de 2019 · The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous mutation, i.e., p.Tyr64Cys in CDC42, signifies a clinically recognizable novel syndrome that has been eponymized as “Takenouchi-Kosaki syndrome” (OMIM #616737).
The ocular phenotype consists of mild ptosis, synophrys, exotropia, and eversion of the lower eyelids. One of two reported patients was described as having bilateral retinal dysplasia and a falciform retinal detachment in one eye. Visual acuity is significantly impaired.
Takenouchi-Kosaki syndrome is an autosomal dominant congenital disorder with a wide range of effects on multiple organ systems. Key features include delayed psychomotor development, intellectual disability, dysmorphic facial features, cardiac, genitourinary, and hematologic defects such as thrombocytopenia and lymphedema.
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 ...
