Ptosis

Page most recently updated 7 September 2026

This page focuses on proptosis as a morphologic feature of conditions that may also be associated with psychiatric manifestations, such as psychosis, mania, autism spectrum disorder, ADHD, OCD, and self-injurious behaviours. The page begins with a clinical definition of proptosis based on the standardized Elements of Morphology terminology, together with visual examples from the same source. This is followed by a list of conditions in which proptosis has been described in association with psychiatric manifestations.

Of note, to optimize clinical utility, the list does not include conditions associated with intellectual disability in the absence of other psychiatric features.

Each condition listed below is linked to a dedicated page within this resource. These pages describe the psychiatric manifestations associated with each condition, as well as other morphologic and broader clinical features, allowing the differential diagnosis to be considered from multiple perspectives.

Ptosis of the right upper eyelid

This girl has ptosis of the right upper eyelid, in addition to downslanted palpebral fissures.

Image credit: National Human Genome Research Institute (NHGRI), Elements of Morphology.

Definition

Subjective: The upper lid margin obscures at least part of the pupil.

Objective: The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris.

Synonyms: Blepharoptosis.

Selected references and further reading — Morphologic lens

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

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.

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.