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Microcephaly-microcornea syndrome, Seemanova type

Disease definition

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.

ORPHA:2528

Classification level: Disorder
  • Synonym(s):
    • Seemanova-Lesny syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C0796151  C2931524
  • MeSH: C537536  C537539
  • GARD: 3627
  • MedDRA: -

Detailed information

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