Craniodigital-Intellectual Disability Syndrome

Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.

Epidemiology

Less than 10 cases have been described in the literature so far.

Clinical description

Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported.

Genetic counseling

Transmission appears to be autosomal or X-linked recessive.