Peters Plus syndrome

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Peters Plus Syndrome is an inherited disorder characterised by eye abnormalities, short stature, developmental delay, an opening in the lip and distinctive facial features. It is also known as Krause-Kivlin Syndrome.

An eye problem called Peters Anomaly is the most common abnormality associated with this condition. This involves the thinning and clouding of the cornea (the clear covering of the eye), and the attachment of the iris (the coloured part of the eye) to the cornea. This causes blurred vision. Some children with Peters Plus Syndrome might have cataracts (clouding of the lens). The severity of these problems varies between individuals.

The average height of adult males ranges from 141cm to 155cm (4ft 7in to 5ft1in). Adult females range in height from 128cm to 151cm (4ft2in to 4ft11in).

Individuals with Peters Plus Syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).

Children will suffer developmental delay ranging from mild to severe. The severity of physical abnormality and developmental delay do not always match.

Peters Plus also manifests itself in distinctive facial features including a prominent forehead, narrow eyes, a long gap between the nose and mouth (philtrum), a pronounced double curve of the upper lip (Cupid’s bow) and a broad neck. A cleft palate is present in 50 per cent of cases.

Children might suffer heart defects, hearing loss, and kidney or genital abnormalities.

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There is no cure for Peters Plus however symptoms can be managed to improve quality of life.
Surgical intervention aims at preserving sight. For example corneal transplantation and/or cataract removal. An operation to separate the iris from the cornea can lead to improved sight by reducing blurring.  

Growth hormone replacement therapy may be beneficial.

Developmental delay should be managed by educational specialists, and occupational therapists (OTs). Pre-school ‘portage’ (a home visiting education programme) may be beneficial.

Physiotherapists and OTs can help manage the side effects of skeletal abnormalities and dwarfism.

Genetic Inheritence

Peters Plus is caused by a mutation in the B3GALTL gene.

It is an ‘autosomal recessive’ genetic disorder, this means both parents must carry the defective gene even though they do not show symptoms themselves.

There is a one in four chance of a later sibling having the same condition.

The incidence of Peters Plus is unknown. There are fewer than 70 people with this condition worldwide.

Contact other families affected by Peters Plus Syndrome

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