Search results
Results From The WOW.Com Content Network
1 per 100,000 births [1] Named after. Rudolf Arthur Pfeiffer. 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.
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly.
Infectious mononucleosis ( IM, mono ), also known as glandular fever, is an infection usually caused by the Epstein–Barr virus (EBV). [2] [3] Most people are infected by the virus as children, when the disease produces few or no symptoms. [2] In young adults, the disease often results in fever, sore throat, enlarged lymph nodes in the neck ...
Holden is one of 1 in 100,000 children born with a genetic disorder called Pfeiffer syndrome. It is associated with more than 25 mutations on one of two fibroblast growth factor receptor genes.
With growing of a child and respectively the hands, secondary revisions are needed to treat the contractures and to improve the aesthetics. See also. Other craniosynostosis syndromes: Crouzon syndrome; Muenke syndrome; Pfeiffer syndrome; Saethre–Chotzen syndrome; Hearing loss with craniofacial syndromes; References
The most common syndromic forms of craniosynostosis; i.e. Apert, Crouzon and Pfeiffer, have an increased risk of developing OSA. The children have nearly 50% chance of developing this condition.
Crouzon syndrome. Crouzon syndrome. Other names. Brachial arch syndrome. Baby with Crouzon syndrome. Specialty. Medical genetics. 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 ...
These conditions are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, achondroplasia, thanatophoric dysplasia, multiple endocrine neoplasia type 2, and multiple endocrine neoplasia type 2b. The most significant effect concerns achondroplasia (a form of dwarfism ), which might occur in about 1 in 1,875 children fathered by men over 50 ...
Examples include the craniosynostosis syndromes such as Crouzon syndrome, Pfeiffer syndrome, Treacher Collins syndrome, Apert syndrome, and Antley-Bixler syndrome. Cause [ edit ] Choanal atresia is caused by problems with the development of the nasal cavity and the palate . [1]
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).