Facial and physical features of Aicardi syndrome: infants to teenagers

Am J Med Genet A. 2005 Oct 15;138A(3):254-8. doi: 10.1002/ajmg.a.30963.


Aicardi syndrome is a sporadic disorder that affects primarily females and is hypothesized to be caused by heterozygous mutations in an X-linked gene. Its main features include of a triad of infantile spasms, agenesis of the corpus callosum, and distinctive chorioretinal lacunae. Additional common findings include moderate to profound mental retardation, gray matter heterotopia, gyral anomalies, and vertebral and rib defects. To date, no consistent facial dysmorphisms have been described. We examined 40 girls with Aicardi syndrome and determined that consistent facial features appeared in over half the study participants and included a prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge, and sparse lateral eyebrows. Externally apparent microphthalmia was seen in 10/40 (25%). Various skin lesions (including multiple nevi, skin tags, hemangiomas, one giant melanotic nevus, and a history of a previously removed angiosarcoma) were present in 8/40 (20%). Hand abnormalities were seen in 3/40 (7.5%) and included camptodactyly, proximal placement of the thumb and hypoplasia of the fifth finger. This study clearly delineates the existence of a distinctive facial phenotype of Aicardi syndrome not previously described. We recommend that features of a prominent premaxilla with upturned nasal tip and vascular malformations/vascular tumors be added to the modified diagnostic criteria in order to improve the ability of geneticists to diagnose Aicardi syndrome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Agenesis of Corpus Callosum*
  • Child
  • Child, Preschool
  • Choroid Diseases / genetics*
  • Choroid Diseases / physiopathology
  • Facial Bones / abnormalities*
  • Female
  • Genetic Diseases, Inborn
  • Humans
  • Infant
  • Infant, Newborn
  • Phenotype
  • Retinal Diseases / genetics*
  • Retinal Diseases / physiopathology
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / physiopathology
  • Syndrome