It is diagnosed by genetic testing .
It is is characterised by characteristic craniofacial appearance , fixed contractures of the upper limbs , abnormal posture , feeding difficulties , intellectual disability , small size at birth and failure to thrive .
It is diagnosed by genetic testing and is characterised by characteristic craniofacial appearance , fixed contractures of the upper limbs , abnormal posture , feeding difficulties , intellectual disability , small size at birth and failure to thrive .