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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 ...
Genetics. Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The protein made by the FGFR3 gene is a receptor that plays a role in the development and maintenance of bone and brain tissue. Researchers do not know how a mutation in FGFR3 leads to the characteristic features of this disorder, but changes in the receptor appear to ...
CM000667 (FASTA) Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene ...
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal ...
Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. [3] [4] It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, [5] or it may be used to describe the premature fusion of all sutures. [2]
Pierre Robin sequence [a] (/ p j ɛər r ɔː ˈ b æ̃ /; [3] abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities.The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway.
Specialty. Medical genetics. Dolichocephaly (derived from the Ancient Greek δολιχός 'long' and κεφαλή 'head') is a term used to describe a head that is longer than average relative to its width. In humans, scaphocephaly is a form of dolichocephaly. Dolichocephalic dogs (such as the Lurcher or German Shepherd) have elongated noses.
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 ...