Cerebrofaciothoracic dysplasia (Q89144): Difference between revisions
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A displasia cerebro-facio-torácica ou síndrome de Pascual-Castroviejo tipo 1 é uma síndrome rara caracterizada por dismorfismo facial (braquicefalia, hipertelorismo, ponte nasal larga, filtro grande, boca em formato triangular e micrognatia), déficit intelectual e anormalidades costovertebrais (curto, bífido ou costelas fundidas, pontes ósseas que unem os arcos posteriores em algumas costelas, hemi vértebras). O déficit intelectual é constante, mas a gravidade varia e os pacientes também apresentam anormalidades cerebrais: atrofia cortical, hipoplasia do corpo caloso e vermis cerebelar. | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:42, 15 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_804357902 |
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| English | Cerebrofaciothoracic dysplasia |
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. |
