Features of 3C Syndrome
Diagnostic criteria used to diagnose patients with normal chromosomes:
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- Complicated congenital heart disease
- Dandy–Walker syndrome malformation or vermian hypoplasia
- Craniofacial malformations
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- either cleft palate or ocular colobomas
- or four of the following;
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- prominent occiput, prominent forehead, hypertelorism, micrognathia, depressed nasal bridge, down slating palpebral fissures, low set ears, and depressed nasal bridge.
Some additional symptoms include:
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- 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
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- delayed walking age (mean: 19 months)
- affected speech
- postnatal growth deficiency
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- feeding dysfunction (gastro-oesophageal reflux, severe feeding difficulties)
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