Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Syndromic disease · Disorder of visual system · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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.
This condition has no sub-types.