Search results
Results From The WOW.Com Content Network
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.
Medical genetics. 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.
Pfeiffer syndrome; Cancer. Breast cancer, a mutation or single nucleotide polymorphism (SNP) in intron 2 of the FGFR2 gene is associated with a higher breast cancer risk; however the risk is only mildly increased from about 10% lifetime breast cancer risk in the average woman in the industrialized world, to 12-14% risk in carriers of the SNP.
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.
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 mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in ...
Atelosteogenesis type I. Other names. Spondylo-humero-femoral dysplasia. Autosomal dominant pattern is the inheritance manner of this condition. Specialty. Medical genetics. Atelosteogenesis type I is a rare autosomal dominant condition. [1] This condition is evident at birth and is associated with a very poor prognosis for the baby.
Cole–Carpenter syndrome. Autosomal recessive pattern is the inheritance manner of this condition. Cole–Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The condition affects less than 10 people worldwide. [1] It is characterised by dysmorphic features and a tendency to fractures.
Cardiocranial syndrome, Pfeiffer type. 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]
Prince's ex-wife Mayte Garcia opened up in a new interview with People to talk about her time with the late singer.
Specialty. Hematology. X-linked severe combined immunodeficiency ( X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells . In the absence of T cell help, B cells become defective. [1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on ...