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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.
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 of the lower eyelid, and thin upper lip, among others).
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).
14 de mar. de 2019 · In the present study, a detailed phenotypic analysis performed for a total of five patients with Takenouchi-Kosaki syndrome revealed that intellectual disability, macrothrombocytopenia,...
7 de ago. de 2022 · Takenouchi-Kosaki syndrome is an extremely rare inherited disease caused by a heterozygous de novo mutation in the cell division cycle 42 (CDC42) gene. Fewer than 20 cases have been reported in the literature since it was first identified in 2015.
2 de may. de 2024 · Relapsing polychondritis is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures, mainly of the ears, nose and respiratory tract, with a broad...
From 2015 onwards, the first patients were reported to have a de-novo heterozygous missense mutation in CDC42 at p.Tyr64Cys, associated with a constellation of features termed Takenouchi-Kosaki syndrome, which includes dysmorphism, developmental delay, macrothrombocytopenia, and in one case immunodeficiency ( 2 – 4 ).
