Microcephaly-microcornea syndrome, Seemanova type

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Synonyms: Seemanova-Lesny syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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