clinical features

Last reviewed 01/2018

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