Down syndrome, or trisomy Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Types of Mutations 21, is the most common chromosomal aberration and the most frequent genetic cause of developmental delay. Both boys and girls are affected and have characteristic craniofacial and musculoskeletal features, as well as multiple medical anomalies involving the cardiac Cardiac Total Anomalous Pulmonary Venous Return (TAPVR), gastrointestinal, ocular, and auditory systems. Characteristic traits include upslanting, almond-shaped eyes with skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions covering the inner aspects, broad flattened nasal bridge, small rounded ears, and small mouth with large tongue Tongue The tongue, on the other hand, is a complex muscular structure that permits tasting and facilitates the process of mastication and communication. The blood supply of the tongue originates from the external carotid artery, and the innervation is through cranial nerves. Lips and Tongue: Anatomy. Screening Screening Preoperative Care for Down syndrome occurs during the 1st and 2nd trimesters of pregnancy Pregnancy The status during which female mammals carry their developing young (embryos or fetuses) in utero before birth, beginning from fertilization to birth. Pregnancy: Diagnosis, Physiology, and Care and includes both blood tests and prenatal ultrasonography. Ultimately, karyotyping Karyotyping Mapping of the karyotype of a cell. Chromosome Testing confirms diagnosis in the prenatal or postnatal period Postnatal period Prenatal and Postnatal Physiology of the Neonate. There is no cure for Down syndrome. Treatment is based on the clinical manifestations present; it includes a strong support system and early intervention programs to help with education and development.
Last updated: 10 Mar, 2022
There are 3 genotypes that result in Down syndrome.
High prevalence Prevalence The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. Measures of Disease Frequency of ocular disorders: Frequency increases with age.
Given the pervasive nature of Down syndrome and the lack of a cure, the majority of management focuses on screening Screening Preoperative Care and prevention of the various clinical manifestations and complications associated with the syndrome.
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