Peters-plus syndrome

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

Peters-plus syndrome is a rare genetic condition affecting multiple organ systems. It is inherited in an autosomal recessive manner, so absence of a relevant family history does not exclude the diagnosis. A distinctive presentation may include Peters anomaly (central corneal opacity and other anterior eye abnormalities), rhizomelic limb shortening (shortening predominantly affecting the proximal segments of the limbs), and intellectual disability.

It can present with psychiatric features such as ADHD, autism spectrum disorder (ASD), anxiety, and, in some individuals, aggressive or destructive behaviour. The range and severity of neurobehavioral and psychiatric manifestations are not yet well delineated.

From a morphologic lens perspective, other features include (but are not limited to):

  • Prominent forehead

  • Round face

  • Micrognathia

  • Widely spaced eyes

  • Preauricular pits

  • Long philtrum

  • Clinodactyly of fifth fingers

Other characteristic features include developmental delay or intellectual disability, hypotonia, and structural brain abnormalities such as agenesis or hypoplasia of the corpus callosum and hydrocephalus or ventriculomegaly. Glaucoma is an important ocular complication. Other manifestations may include cleft lip or palate, congenital heart defects, gastrointestinal abnormalities, genital anomalies, and congenital abnormalities of the kidneys or urinary tract.

Early diagnosis is important to identify and manage potentially significant ocular, neurological, developmental, musculoskeletal, and other congenital complications; to detect glaucoma and other vision-threatening abnormalities early; and to provide appropriate developmental, educational, and multidisciplinary support.

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.