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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
  • ICD-11: LD20.2
  • OMIM: -
  • UMLS: C2931524
  • MeSH: C537536  C537539
  • GARD: 3627
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.