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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.
Prince Rogers Nelson (June 7, 1958 – April 21, 2016) was an American singer, multi-instrumentalist, songwriter, record producer, and actor. The recipient of numerous awards and nominations, he is widely regarded as one of the greatest musicians of his generation. [7] He was known for his flamboyant, androgynous persona; [8] [9] his wide vocal ...
Achondroplasia. Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. Signs and symptoms. Features of this condition include: Abnormal heart morphology
View/Edit Mouse. Fibroblast growth factor receptor 2 ( FGFR2) also known as CD332 ( cluster of differentiation 332) is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10. [5] [6] FGFR2 is a receptor for fibroblast growth factor . The protein encoded by this gene is a member of the fibroblast growth factor receptor ...
A conductive hearing loss along with middle ear disease is most commonly seen in patients with Pfeiffer syndrome; although, there have been reports of mixed hearing loss as well. The hearing loss is most typically caused by stenosis or atresia of the auditory canal , middle ear hypoplasia and ossicular hypoplasia (Vallino-Napoli, 1996).
Brachyturricephaly. Brachyturricephaly is a form of complex craniosynostosis (a combination of brachycephaly and turricephaly) in which the head has both an abnormally high vertical height and a shortened length from anterior to posterior. Malformations of the occipital region are also often present. [1] [2] [3]
Genetic disorder. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single ...
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.
Spouse. Prince. . . ( m. 1996; div. 2000) . Children. 2 [a] Mayte Jannell Garcia ( / ˈmaɪteɪ /; born November 12, 1973) is an American dancer, actress/actor and former singer. She was married to Prince for four years and has worked with various music artists.