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Microcephaly-brachydactyly-kyphoscoliosis syndrome

Disease definition

Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.

ORPHA:3433

  • Synonym(s):
    • Viljoen-Kallis-Voges syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C2931177
  • MeSH: -
  • GARD: 5490
  • MedDRA: -

Additional information

Further information on this disease

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