Clinical features
Patients tend to have a characteristic appearance with a typical face:
- brachycephaly
- short neck
- epicanthic folds on the medial aspect of the eyes
- an inward down - mongoloid - slant to the eyes
- Brushfield spots on the iris
- almond shaped eyes
- small simple ears, which may be low set
- flat nasal bridge
- protruding tongue, mouth hanging open
- narrow high arched palate
Other features include:
- hypotonia, often noted at birth
- short fingers and especially short or absent second phalanx in the fifth digit
- clinodactyly
- transverse tongue fissures
- congenital heart lesions
- mental retardation, with a majority having an IQ less than 50
- single, simian crease in about 45%
- wide space between first and second toes
- straight pubic hair
- cataract in 60% of patients
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