Apert Syndrome

Summarized by Plex Health
Last Updated: 02 May 2022
molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (fgfr2) gene in two families with index cases of apert syndrome. "molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (fgfr2) gene in two families with index cases of apert syndrome.", by Torres L, Hernández G, Barrera A, Ospina S, Prada R. f04: A. Male patient (II, 2) diagnosed with Apert Syndrome. Craniofacial features includes midface hypoplasia, low-set ears, depressed nose bridge, turricephaly, and osseous syndactyly in hands and feet. B. Skull computer tomography (CT) with three-dimensional...

Apert syndrome is a hereditary disorder characterized by skeletal abnormalities. A vital feature of Apert syndrome is the early closure of the bones of the head. Craniosynostosis causes a lot of the characteristic face features of Apert syndrome. In individuals with Apert syndrome, underdeveloped top jaw can lead to oral troubles, such as missing teeth, uneven tooth enamel, and crowded teeth. Many individuals with Apert syndrome have vision issues as a result of eye irregularities, which can consist of protruding eyes, wide-set eyes, outside corners of the eyes that point downward, eyes that do not look in the same direction, and shallow eye sockets. Some people with Apert syndrome have hearing loss or recurrent ear infections due to misshapen ear frameworks. Abnormal growth of structures in the face and head can additionally cause partial obstruction of the air passages and lead to breathing troubles in people with Apert syndrome. Craniosynostosis impacts development of the brain, which can interrupt intellectual development. Cognitive capabilities in people with Apert syndrome range from normal to modest or mild intellectual impairment. Individuals with Apert syndrome have syndactyly of the fingers and toes. Seldom, people with Apert syndrome might have added fingers or toes. Some people with Apert syndrome have irregularities in the bones of the shoulders or elbow joints. Added signs and symptoms of Apert syndrome can consist of unusually heavy sweating, oily skin with serious acne, or spots of missing out on hair in the brows.

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