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Craniodigital-intellectual disability syndrome
Disease definition
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.
ORPHA:1514
Classification level: DisorderSummary
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.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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