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Microcephaly - brachydactyly - kyphoscoliosis

Orpha number ORPHA3433
Synonym(s) Viljoen-Kallis-Voges syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This 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.


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