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Ocular Features: 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.
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 ...
Vision is poor and at least one individual has been found to have abnormal development of the retina. Strabismus (misalignment of the eyes), and nystagmus (jerky movements of the eyes) are present. An unusual feature is the outward turning of the lower eyelids (lid eversion).
4 de abr. de 2018 · Phenotypic anomalies present in both this patient and the patient reported by Takenouchi et al. (2015) included arched eyebrows, mild ptosis, eversion of lateral portion of lower eyelid, exotropia, midface hypoplasia, short philtrum, thin upper lip, malocclusion, camptodactyly, and ventriculomegaly.
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.
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 defects ...
