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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 ]
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. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. [5]
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.
Within craniofacial disorders and abnormalities, orofacial clefts, and specifically cleft lip (CL) and cleft palate (CP) are the most common in humans. [9] Occurrences of CL/P are most often (around seventy percent of cases) isolated and nonsyndromic, meaning they are not associated with a syndrome or inherited genetic conditions.
Hearing loss with craniofacial syndromes (11 P) S. Syndromes with cleft lip and/or palate (21 P) Pages in category "Syndromes with craniofacial abnormalities"
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.