3C Syndrome - Features of 3C Syndrome

Features of 3C Syndrome

Diagnostic criteria used to diagnose patients with normal chromosomes:

  1. Complicated congenital heart disease
  2. Dandy–Walker syndrome malformation or vermian hypoplasia
  3. Craniofacial malformations
  • either cleft palate or ocular colobomas
  • or four of the following;
  • prominent occiput, prominent forehead, hypertelorism, micrognathia, depressed nasal bridge, down slating palpebral fissures, low set ears, and depressed nasal bridge.

Some additional symptoms include:

  • rib abnormalities
  • hypospadias
  • renal hypoplasia
  • anal abnormalities
  • lymphedema
  • human growth hormone deficiency
  • single umbilical artery
  • heterochromia iridis
  • severe motor retardation, which might be related to hypotonia
  • delayed walking age (mean: 19 months)
  • affected speech
  • postnatal growth deficiency
  • feeding dysfunction (gastro-oesophageal reflux, severe feeding difficulties)

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