Peters plus syndrome

Alternate names

Peters anomaly with short limb dwarfism; Krause-Kivlin syndrome

Definition

Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.

Epidemiology

Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer than 80 people with this condition have been reported worldwide.

Cause

Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions.

Gene mutations

Most mutations in the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the B3Glc-T enzyme, which disrupts glycosylation. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.

Inheritance

Autosomal recessive inheritance, a 25% chance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Signs and symptoms

• The eye problems in Peters plus syndrome occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part of the eye (iris), and the clear covering of the eye (cornea).
• An eye problem called Peters anomaly is the most common anterior segment abnormality seen in Peters plus syndrome. Peters anomaly involves abnormal development of the anterior segment, which results in a cornea that is cloudy (opaque) and causes blurred vision. Peters anomaly may also be associated with clouding of the lenses of the eyes (cataracts) or other lens abnormalities.
• Peters anomaly is usually bilateral, which means that it affects both eyes. The severity of corneal clouding and other eye problems can vary between individuals with Peters plus syndrome, even among members of the same family. Many people with Peters plus syndrome experience vision loss that worsens over time.
• All people with Peters plus syndrome have short stature, which is evident before birth. The height of adult males with this condition ranges from 141 centimeters to 155 centimeters (4 feet, 7 inches to 5 feet, 1 inch), and the height of adult females ranges from 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). Individuals with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).
• The characteristic facial features of Peters plus syndrome include a prominent forehead; small, malformed ears; narrow eyes; a long area between the nose and mouth (philtrum); and a pronounced double curve of the upper lip (Cupid's bow). The neck may also be broad and webbed.
• A cleft lip with or without a cleft palate is present in about half of the people with this condition.
• Developmental milestones, such as walking and speech, are delayed in most children with Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although some have normal intelligence. The severity of physical features does not predict the level of intellectual disability.
• Less common signs and symptoms of Peters plus syndrome include heart defects, structural brain abnormalities, hearing loss, and kidney or genital abnormalities.

Symptoms of Peters plus syndrome may include:

• Peters anomaly (abnormal structures in the front of the eye)
• Cloudy corneas
• Short stature
• Shortened limbs
• Developmental delay and/or intellectual disability
• Cleft lip and/or cleft palate

Other less common symptoms may include heart and kidney abnormalities. Growth delay starts during pregnancy, and most people with PSS are shorter than average. Some degree of developmental delay and/or intellectual disability is common. Some people with PPS develop cataracts or glaucoma later in life.

Diagnosis

Peters plus syndrome should be suspected in individuals with anterior chamber anomalies of the eye (usually bilateral but in some cases unilateral), with or without any of the following:[1].

• Short limbs with broad distal extremities
• Characteristic facial features including an exaggerated Cupid’s bow of the upper lip, short palpebral fissures, and ear anomalies
• Cleft lip/palate
• Variable developmental delay/intellectual disability

Establishing the Diagnosis The diagnosis of Peters plus syndrome can be established clinically in a proband with the above Suggestive Findings. The diagnosis can be confirmed by identification of biallelic pathogenic variants in B3GLCT on molecular genetic testing .

Treatment

Consideration of corneal transplantation (penetrating keratoplasty) for severe bilateral corneal opacification before age three to six months to prevent amblyopia; consideration of simple separation of iridocorneal adhesions in mild cases; management of amblyopia by a pediatric ophthalmologist; surgical/medical intervention for glaucoma as needed; developmental/educational interventions as needed.

NIH genetic and rare disease info

• NIH info on Peters plus syndrome

Peters plus syndrome is a rare disease.

Peters plus syndrome Resources
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