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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 ...
1 per 100,000 births [1] Named after. Rudolf Arthur Pfeiffer. 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.
Treacher Collins syndrome ( TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. [5]
Trapezoidocephaly-synostosis syndrome, [1] Antley–Bixler syndrome has an autosomal recessive pattern of inheritance. Specialty. Medical genetics. Antley–Bixler syndrome is a rare, severe autosomal recessive [2] congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the ...
Paternal age effect. The paternal age effect is the statistical relationship between the father's age at conception and biological effects on the child. [1] Such effects can relate to birthweight, congenital disorders, life expectancy and psychological outcomes. [2] A 2017 review found that while severe health effects are associated with higher ...
Maxillary hypoplasia, or maxillary deficiency, is an underdevelopment of the bones of the upper jaw. It is associated with Crouzon syndrome, Angelman syndrome, as well as Fetal alcohol syndrome. It can also be associated with Cleft lip and cleft palate. Some people could develop it due to poor dental extractions. [1]
Achondroplasia. Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
Choanal atresia is a congenital disorder where the back of the nasal passage ( choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed hole development of the nasal fossae during prenatal development. It causes persistent rhinorrhea, and with bilateral choanal atresia and obstructed airway that can cause cyanosis ...