CHIME Syndrome

Last Updated: 2023-10-12

Author(s): Navarini, A.A.

ICD11: -

  • Congenital Ichthyosiform Erythroderma, Cardiac Anomalies, Intellectual Disabilities, Microcephaly, and Ear Anomalies
  • CHIME complex
  • Ichthyosis-Mental Retardation-Microcephaly-Ear Anomalies-Cardiac Defects
  • Ichthyosis-Mental Retardation-Microcephaly-Ear Abnormalities-Cardiac Malformations

CHIME syndrome is a rare neuroectodermal disorder characterised by bilateral coloboma of the eyes, congenital heart defects, severe ichthyosiform dermatosis from the first month of life, moderate to severe intellectual disability, and ear abnormalities.

Very rare, only case reports.

The cause is probably a disorder of glycosylation due to an abnormal PIGL gene.

Bilateral coloboma of the iris is associated with malformations of the skin, heart, ear and cognition. Shortly after birth or immediately thereafter, a reddish migratory skin rash appears, which may fluctuate over time. The skin becomes ichthyotic, especially in mobile areas. With age, characteristic facial features appear, such as brachycephaly, squint angle, hypertelorism, flat midface and philtrum, protruding nostrils, thin upper lip, widely spaced, irregularly shaped teeth and excessive wrinkling around a wide mouth. The ears are often low-set or flattened, with excessive exfoliated cellular debris blocking the auditory canals. Less common findings are hearing loss, orofacial cleft 8, sternal hump and cleft nipples.
Early at one year of age, convulsions are common and difficult to treat. In adolescence, expect moderate to severe mental retardation with autistic behaviours, convulsions and a chronic migratory non-scarring rash with itching. The discomfort associated with the rash associated with intellectual disability is thought to cause behavioural problems such as aggression and self-injury. Cardiac manifestations include tetralogy of Fallot (TOF), transitory global amnesia (TGA), pulmonary stenosis and enlarged aortic root. Genital-urinary tract abnormalities have also been described.

Clinical picture and matching clinical constellation.
If necessary, genetic testing.

Extremities, gluteal.

No diagnostic patterns.

Epileptic seizures, others.

  1. Nampoothiri S, Thomas B, Jayakumar R. CHIME syndrome: A rare cause of hydrocephalus. Neurol India. 2016 Oct-Dec;64(4):909-910.
  2. Basinger T, Wigg K, Kalinyak J, et al. A rare cause of hydrocephalus in infants: CHIME syndrome. J Neurosurg Pediatr. 2016 Sep;18(3):329-334.
  3. Martinez-Glez V, Rodriguez-Jimenez R, Rodriguez-Lorenzo L, et al. CHIME syndrome: a case report and review of the literature. Childs Nerv Syst. 2009 Sep;25(9):1057-1060.
  4. Pozo-Rosich P, Queiros E, Roura E, et al. CHIME syndrome: report of two new cases. Clin Dysmorphol. 2002 Oct;11(4):301-305.
  5. Parente F, Palermo L, Iughetti L, et al. CHIME syndrome: a case report and review of the literature. J Pediatr Endocrinol Metab. 2003 Oct;16(10):1155-1159.