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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.
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.
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.
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.
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.
1 in 5,000–10,000 [4] Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
An activating mutation in FGFR1 viz., P232R (proline-to-arginine substitution in the protein's 232nd amino acid), is responsible for the Type 1 or classic form of Pfeiffer syndrome, a disease characterized by craniosynostosis and mid-face deformities. A tyrosine-to-cysteine substitution mutation in the 372nd amino acid of FGFR1 (Y372C) is ...