Aarskog syndrome (faciogenital dysplasia)

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.

Aarskog syndrome (faciogenital dysplasia) is a rare genetic disorder. The form described here is FGD1-related Aarskog-Scott syndrome, which is usually associated with X-linked inheritance and predominantly affects males, although heterozygous females may have a milder or incomplete phenotype. Absence of a relevant family history does not exclude the diagnosis. A distinctive presentation may include the combination of widely spaced eyes, brachydactyly, and shawl scrotum.

It can present with psychiatric features such as ADHD, attention difficulties, executive-function difficulties, specific learning disorders, and speech or language delay. Intellectual disability is relatively uncommon and is usually mild when present. Behavioral and learning difficulties may be particularly relevant during childhood.

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

  • Round face

  • Midface retrusion

  • Neck webbing

  • Widely spaced eyes

  • Downslanted palpebral fissures

  • Ptosis

  • Protruding ears

  • Short nose

  • Broad philtrum

  • Brachydactyly

  • Clinodactyly of fifth fingers

  • Broad thumbs and/or broad halluces

  • Single transverse palmar crease

Other characteristic features include short stature, skeletal abnormalities, and genital abnormalities, particularly shawl scrotum and cryptorchidism; skeletal abnormalities may include metatarsus varus and camptodactyly. Dental abnormalities may include crowding, malocclusion, abnormal tooth morphology, and delayed eruption. Ophthalmologic manifestations may include hyperopia, strabismus, and ptosis. Additional reported features include inguinal hernia, umbilical hernia, congenital heart defects, cleft lip and/or palate, renal abnormalities, and structural brain abnormalities.

Early diagnosis is important to identify and monitor potentially significant developmental, educational, ophthalmologic, skeletal, genitourinary, dental, cardiac, and neurologic complications, recognize neuropsychiatric needs early, and institute tailored multidisciplinary surveillance and treatment.

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.