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Pages in category "Syndromes with craniofacial abnormalities" The following 76 pages are in this category, out of 76 total. This list may not reflect recent changes.
Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by craniofacial dysostosis, small cranium with accompanying thin skullbone, generalized depressions on the frontoparietal and occipitoparietal sutures.
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. [ 1 ] They are associated with the development of the pharyngeal arches . [ 2 ]
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull Last case reported in 1987. [36] Cloverleaf skull-multiple congenital anomalies syndrome Cloverleaf skull Seen in 3 siblings from 1 family. [37] Contractures, pterygia, and spondylocarpotarsal fusion syndrome Microcephaly [38] Cole-Carpenter syndrome: Coronal Turricephaly
Crouzon syndrome is named for Octave Crouzon, [1] [2] a French physician who first described this disorder. First called "craniofacial dysostosis" (" craniofacial " refers to the skull and face , and " dysostosis " refers to malformation of bone), the disorder was characterized by a number of clinical features which can be described by the ...
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy.
Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s.
Carpenter syndrome: acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies, brachydactyly and syndactyly, foot polydactyly. [23] Crouzon syndrome: craniofacial abnormalities with bilateral coronal suture fusion; anterior and posterior of skull shortness, flat cheek bones and a flat nose.