Characteristics
Last Updated on Thursday, 13 May 2010 11:21
Most likely features
- Developmental delay
- Recognisable facial appearance
- Learning difficulty or disability
- Low muscle tone, so babies and children feel floppy
Other common features
- Heart conditions
- Seizures
- Minor genital anomalies in males
- Sleep difficulties
- Behaviour difficulties
- Strabismus (squint) or other unusual eye features
- Respiratory infections caused by aspiration reflux/GERD.
Less common features
- Slightly unusual hands and/or feet (single palm crease, incurving fingers, short or tapering fingers, unusually positioned feet)
- Hearing impairment
- Kidney anomalies
- Connective tissue disorders, including lax joints and hernias
- Patches of lighter skin colouring
- Dental anomalies
- Anal atresia (the normal opening for the anus is not present)
- Possibly, overweight
Information reproduced with permission, from Unique's Kleefstra syndrome leaflet.
