Preferred Label : Cerebrofaciothoracic dysplasia;
ICD-11 definition : Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare
syndrome characterized 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.;
Origin ID : 804357902;
Automatic exact mappings (from CISMeF team)
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare
syndrome characterized 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.
