The eyes of these patients appear to "bulge out" due to the fact that their skull base and mid-face fails to grow in a normal fashion.įace. The sutures most commonly affected are the coronal sutures, which extend from ear to ear. When the sutures fuse together while the brain is still growing, the head and face become misshapen. Patients with Apert Syndrome typically have premature fusion of multiple cranial sutures. Distortions develop when the bone sections of the skull (sutures) fuse together too early in the life of the baby. doi: 10.1038/ng0295-165.Apert Syndrome, a form of craniosynostosis, is a genetic condition primarily involving distortions of the head and face. Mutations of FGFR2 and is allelic with Crouzon syndrome. RD, David DJ, Pulleyn LJ, Rutland P, et al. Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward.Receptors, and human limb malformations: clinical and molecular correlations. Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC.Seattle (WA): University of Washington, Seattle 1993-2023. Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Surman TL, Logan RM, Townsend GC, Anderson PJ.Craniosynostosis as a clinicalĪnd diagnostic problem: molecular pathology and genetic counseling. Kutkowska-Kazmierczak A, Gos M, Obersztyn E.Understanding the molecularīasis of Apert syndrome. Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M.Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity David DJ, Anderson P, Flapper W, Syme-Grant J, Santoreneos S, Moore M.Roles of FGF signaling in skeletal development and human Apert and Crouzon syndromes: clinicalįindings, genes and extracellular matrix. Carinci F, Pezzetti F, Locci P, Becchetti E, Carls F, Avantaggiato A,īecchetti A, Carinci P, Baroni T, Bodo M.Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM.
Webbed hands skin#
In some people, abnormalities occur in both sides of the body, but in others, only one side is affected.Īdditional signs and symptoms of Apert syndrome can include unusually heavy sweating (hyperhidrosis), oily skin with severe acne, or patches of missing hair in the eyebrows. These bone problems can restrict movement and impede everyday activities. Some people with Apert syndrome have abnormalities in the bones of the elbows or shoulders. Rarely, people with Apert syndrome may have extra fingers or toes ( polydactyly ). In the most severe cases, all of the fingers and toes are fused. Most commonly, three digits on each hand and foot are fused together. The severity of the fusion varies, although the hands tend to be more severely affected than the feet.
Individuals with Apert syndrome have syndactyly of the fingers and toes. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Craniosynostosis also affects development of the brain, which can disrupt intellectual development. Ībnormal development of structures in the face and head can also cause partial blockage of the airways and lead to breathing difficulties in people with Apert syndrome. Some people with Apert syndrome have hearing loss or recurrent ear infections due to malformed ear structures. Many individuals with Apert syndrome have vision problems due to eye abnormalities, which can include bulging eyes (exophthalmos), wide-set eyes ( hypertelorism ), outside corners of the eyes that point downward (downslanting palpebral fissures), eyes that do not look in the same direction (strabismus), and shallow eye sockets (ocular proptosis). In individuals with Apert syndrome, an underdeveloped upper jaw can lead to dental problems, such as missing teeth, irregular tooth enamel, and crowded teeth. Premature fusion of the skull bones prevents the head from growing normally, which leads to a sunken appearance in the middle of the face (midface hypoplasia), a beaked nose, a wrinkled forehead, and an opening in the roof of the mouth ( a cleft palate ). In addition, a varied number of fingers and toes are fused together (syndactyly).Ĭraniosynostosis causes many of the characteristic facial features of Apert syndrome. This early fusion prevents the skull from growing normally and affects the shape of the head and face. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). Apert syndrome is a genetic disorder characterized by skeletal abnormalities.
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