Cerebrofaciothoracic dysplasia (Q89144)

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterised by facial dysmorphism (brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia), intellectual deficit and costovertebral abnormalities (short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae). Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis.