Renpenning Syndrome caused by a mutation on the PQBP1 gene. 

This syndrome occurs mainly in men.

It is characterised by the following clinical signs

• intellectual disability and moderate growth retardation
• Microcephaly. However the reduction in cerebral volume seems to be proportional, with no particularity visible, at present, on MRI.
• A small height and a proportionally lower weight.
• Progressive weakness of the upper back muscles.
• difficulty in bending the thumb and opposing it to the fifth finger.
• a nasal voice with frequent otitis, which is a sign of soft palate insufficiency.
• Distinctive facial features: a rather triangular face, side eyebrows, straight and sparse hair, poorly hemmed or folded ears and a rather strong, "boxer" nose.
• moderate to mild intellectual disability.

The subjects studied often have a rather anxious character.

Many also have attention and motor control problems.

The families are regularly in contact with each other, which can help new families to look ahead to the future.

To get the full description of the syndrome: please click here.