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Microcephaly-microcornea syndrome, Seemanova type
rareMicrocephaly-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.
- Identifiers
- MONDO:0016760 Orphanet:2528
- Part of
- Disorder of visual systemMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- microcephaly microcornea syndrome Seemanova type · Seemanova Lesny syndrome · Seemanova-Lesny syndrome · X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation
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