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Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
Prognosis. When associated with nasopharyngeal occlusion, the person is more likely to spend their days in forward head posture which may lead to back pain, neck pain and numbness in the arms and hands. It can also lead to sleep apnea and snoring. People can generally live a relatively normal life with maxillary hypoplasia.
Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull ( craniosynostosis ), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. Pfeiffer syndrome is caused by mutations in the fibroblast ...
Acrocephalosyndactyly. Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull ( craniosynostosis) and hands and feet ( syndactyly ). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.
Pierre Robin sequence (/ p j ɛər r ɔː ˈ b æ̃ /; abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities.The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway.
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal ...
Prognosis. Generally normal life expectancy [6] Frequency. 1 in 50,000 people [5] 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]
Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. Some of the signs and symptoms of Crouzonodermoskeletal syndrome are similar to those seen with Crouzon syndrome.
Crouzon syndrome: craniofacial abnormalities with bilateral coronal suture fusion; anterior and posterior of skull shortness, flat cheek bones and a flat nose. Jackson-Weiss syndrome : craniosynostosis with midfacial hypoplasia and foot anomalies.
Dolichocephaly can sometimes be a symptom of Sensenbrenner syndrome, Crouzon syndrome, Sotos syndrome, [2] CMFTD [3] and Marfan syndrome. However, it also occurs non-pathologically as a result of normal variation between human populations.