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Peters plus syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Peters plus syndrome

Peters plus syndrome is an inherited condition characterized by eye abnormalities, short stature, distinctive facial features, and intellectual disability.

Overview

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

Symptoms

  • Eye Abnormalities: The most common is Peters anomaly, which involves abnormal development of the anterior segment of the eye, resulting in a cloudy (opaque) cornea and blurred vision. This often affects both eyes and may be associated with lens clouding or other lens abnormalities. Vision loss may worsen over time.
  • Short Stature: Evident before birth. Adult males typically range from 141 to 155 cm (4'7" to 5'1"), and adult females range from 128 to 151 cm (4'2" to 4'11").
  • Skeletal Features: Shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).
  • Facial Features: Prominent forehead; small, malformed ears; narrow eyes; a long philtrum; and a pronounced Cupid's bow of the upper lip. The neck may be broad and webbed.
  • Clefting: A cleft lip with or without a cleft palate is present in about half of affected individuals.
  • Developmental and Intellectual: Delayed developmental milestones (walking, speech) and intellectual disability ranging from mild to severe.
  • Other: Less common signs include heart defects, structural brain abnormalities, hearing loss, and kidney or genital abnormalities.

Causes

Peters plus syndrome is caused by mutations in the B3GLCT gene. This gene provides instructions for making the enzyme beta 3-glucosyltransferase (B3Glc-T), which is involved in glycosylation—the process of adding sugar molecules to proteins. Most mutations lead to a nonfunctional enzyme, which disrupts glycosylation and likely impairs the function of many proteins, contributing to the syndrome's various features.

Inheritance

This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Parents of an affected individual each carry one copy of the mutated gene but typically do not show signs of the condition.

Frequently Asked Questions

Because the B3GLCT mutation can affect multiple tissues, schedule baseline and periodic evaluations of cardiac anatomy (echocardiogram), renal function (ultrasound, serum creatinine), hearing (audiology), and brain imaging if neurologic symptoms arise. Annual check‑ups with a multidisciplinary team help catch complications early.
Molecular testing of the B3GLCT gene (sequencing or deletion/duplication analysis) confirms the diagnosis. Once a pathogenic variant is identified, carrier testing can be offered to parents and at‑risk relatives. Since the condition is autosomal recessive, each subsequent pregnancy carries a 25 % recurrence risk; prenatal diagnosis via chorionic villus sampling or amniocentesis is possible if the family’s variant is known. Genetic counseling is strongly recommended.
Look for a cloudy or centrally displaced cornea (Peters anomaly), a cleft lip/palate, unusually short limbs, and distinctive facial features such as a prominent forehead and a Cupid’s‑bow upper lip. When two or more of these signs appear together, especially with growth restriction, a genetics referral is warranted.
Initial management focuses on protecting the eye (lubricating drops, patching) and monitoring intra‑ocular pressure. Surgical options include corneal transplantation or keratoplasty, usually after the infant is 6–12 months old. Visual prognosis varies: some children achieve useful vision with glasses or contact lenses, while others remain legally blind despite surgery. Early visual‑rehabilitation services are essential.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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