Cerebrofaciothoracic dysplasia
What is Cerebrofaciothoracic dysplasia?
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
Other condition names
- Pascual-Castroviejo syndrome type 1
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Antenatal
- Neonatal
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