Apert syndrome (acrocephalosyndactyly type 1)

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.

Apert syndrome (acrocephalosyndactyly type 1) is a rare genetic condition affecting multiple organ systems. It is inherited in an autosomal dominant manner, although most affected individuals have a de novo genetic change, so absence of a relevant family history does not exclude the diagnosis. A distinctive presentation may include multisuture craniosynostosis, midface retrusion, syndactyly, and broad distal phalanges of the thumb or great toe.

It can present with psychiatric features such as behavioural difficulties, attention difficulties, and ADHD. Social difficulties and emotional or internalising problems have also been described. Autism spectrum disorder (ASD) has been reported, but the evidence for a specific association remains limited. Neurobehavioural manifestations are usually recognised during childhood, although social and psychological difficulties may persist into adulthood.

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

  • Flat occiput

  • Frontal bossing

  • Flat face

  • Broad face

  • Midface retrusion

  • Widely spaced eyes

  • Downslanted palpebral fissures

  • Proptosis

  • Short nose

  • Brachydactyly

  • Syndactyly

  • Broad thumbs and/or broad halluces

Other characteristic features include developmental delay or intellectual disability, ventriculomegaly or, less commonly, hydrocephalus, and hearing impairment. Other important manifestations include cleft palate, dental abnormalities, progressive fusion of bones in the hands, feet, and cervical spine, airway obstruction or sleep-disordered breathing, and hyperhidrosis. Ocular abnormalities may include strabismus and refractive errors. Congenital cardiac, gastrointestinal, and genitourinary abnormalities may also occur.

Early diagnosis is important to identify and manage potentially significant craniofacial, neurological, airway, ocular, auditory, musculoskeletal, and developmental complications; to guide timely surgical and multidisciplinary management; and to provide appropriate developmental, educational, behavioural, and psychosocial 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.