Microcephaly-brachydactyly-kyphoscoliosis syndrome

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Synonyms: Viljoen-Kallis-Voges syndrome

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.

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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