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.