You are using an outdated browser. Please upgrade your browser to improve your experience.

microcephaly-microcornea syndrome, Seemanova type

Disease Summary
Associated Targets ()

Mondo Description Microcephaly-microcornea syndrome, Seemanova type is characterised 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.
Mondo Term and Equivalent IDs
MONDO:0016760:  microcephaly-microcornea syndrome, Seemanova type
GARD:0003627: 
MESH:C537539: 
Orphanet:2528: 
SCTID:715464002: