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Children born with craniosynostosis have a distinct phenotype, i.e., appearance—observable traits caused by the expression of a condition's genes. The features of craniosynostosis' particular phenotype are determined by which suture is closed. [7] The fusion of this suture causes a certain change in the shape of the skull; a deformity of the ...
Human infectious diseases may be characterized by their case fatality rate (CFR), the proportion of people diagnosed with a disease who die from it (cf. mortality rate).It should not be confused with the infection fatality rate (IFR), the estimated proportion of people infected by a disease-causing agent, including asymptomatic and undiagnosed infections, who die from the disease.
Muenke syndrome, also known as FGFR3-related craniosynostosis, [1] is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face.
Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2. The syndrome is grouped into three types: type 1 (classic Pfeiffer syndrome) is milder and caused by mutations in either gene; types 2 and 3 are more severe, often leading to death in infancy, caused by mutations in FGFR2 .
Craniosynostosis, Philadelphia type is a rare autosomal dominant syndrome characterized by sagittal craniosynostosis (scaphocephaly) and soft tissue syndactyly of the hands and feet. This condition is considered a form of acrocephalosyndactyly .
Craniosynostosis, a condition in which the sutures of the head (joints between the bones of the skull) prematurely fuse and subsequently alter the shape of the head, is seen in multiple conditions, as listed below. The level of involvement varies by condition and can range from minor, single-suture craniosynostosis to major, multisutural ...
The disease, which is usually fatal for cattle, infects the central nervous system and leaves the animals with aggressive symptoms and a lack of coordination. Since 1995, 178 human deaths have ...
Acrocephalosyndactyly presents in numerous different subtypes, however, considerable overlap in symptoms occurs. Generally, all forms of acrocephalosyndactyly are characterized by atypical craniofacial, hand, and foot characteristics, such as premature closure of the fibrous joints in between certain bones of the skull, [16] [17] fusion of certain fingers or toes, [16] [18] and/or more than ...