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Brachmann de Lange syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Brachmann de Lange syndrome is characterised by small hirsute babies with microencephaly. Characteristic features include:

  • thick confluent eyebrows
  • small upturned nose
  • long and featureless philtrum
  • thin downturned lips
  • small chin
  • the limbs may be short with digital anomalies

These babies generally develop severe mental retardation and failure to thrive. The majority die within the first two years of life.

The syndrome is sporadic with a recurrence risk of about 1:30.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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