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Pfeiffer syndrome. 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 ...
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, and ...
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), [2] thereby changing the growth pattern of the skull. [3] Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the ...
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 ...
Carpenter syndrome. Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
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. [1] [2] [3] [4]
Literature has suggested that persons with Crouzon syndrome typically have conductive hearing loss caused by middle ear effusion (or fluid in the middle ear) and perforation to ossicular fixation (ossicles), intratympanic bony masses (tympanic membrane), ossicular anomalies and closure of the oval window. Patients with a sensorineural hearing ...
Medical genetics. Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified as a glycogen storage disease because it is another defect of glycogen storage and can cause ...