Skip to Accessibility Menu Skip to Login Skip to Content Skip to Footer

Temtamy syndrome

What is Temtamy syndrome?

A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

Other condition names

  • Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
  • Temtamy-Shalash syndrome

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.