Microcephaly-microcornea syndrome, Seemanova type

Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.

Also known as: Seemanova-Lesny syndrome, Seemanova Lesny syndrome, X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, microcephaly microcornea syndrome Seemanova type

0 clinical trials for this condition and its sub-types, 0 tagged with Microcephaly-microcornea syndrome, Seemanova type itself.