PPT-GENETIC AND CONGENITAL DISORDERS

TERMINOLOGY OF GENETIC AND CONGENITAL DISORDERS Congenital Allele Gene locus Gene mutation Genotype Phenotype Homozygous Heterozygous Polymorphism Gene penetrance Gene expression CAUSES OF BIRTH DEFECTS. Also its possible for otherwise healthy people to develop severe illness so any one concerned about their illness should consult their doctor There are emergency warning signs that should signal anyone to seek medical care urgently Emergency Warning They can affect how blood flows th rough the heart and out to the rest of the body Common examples include holes in different areas of the heart and narrow or leaky valves There are many types of heart defects with different degrees of severity base Consultation. September – December 2014. What is congenital heart disease ?. Congenital . heart disease is a general term for a range of birth defects that affect the normal workings of the heart. . Hemiparesis. . Congenital Heart Disease. . Congenital heart disease (CHD) is the most common type of birth defect. CHD refers to a problem with the heart’s structure that occurred because of abnormal development in the heart before birth. CHD consists of 2 categories: Cyanotic CHD and . Tsepamo. Study. Health Care Professionals Training. Congenital Abnormality (CA). Also known as…. “Birth Defect”. “Congenital Defect”. “Congenital Anomaly”. “Congenital Malformation”. Limb reduction defects. Presenter. Learning Objectives. By the end of this presentation participants will be able to describe. :. Classification of limb deficiencies. Clinical features of . limb deficiencies. Genetic disorders can be due to any of the following factors:. A. Monogenetic Disorders: Caused by a mutation in a single gene. Autosomal. recessive alleles:. a. You may be a carrier and not know it, since the dominant allele masks the recessive.. angela. Christi . Amores. Congenital Heart Disease. 0.5-0.8% of live . births. incidence is higher in stillborns (3-4%), . abortuses. (10-25%), and premature infants (about 2. %). diagnosis is established by 1 wk of age in 40-50% of patients with congenital heart disease and by 1 mo of age in 50-60%. Early OnMichiganEstablished conditions indicate automatic eligibility for Early Onsupports and services Established conditions must be diagnosedby an appropriate health care or mental health providera Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . Dr.Hatoon. . Elniema. . Objectives:. Introduction. Embryology. neural tube defects. Anencephaly. Encephalocele. .. Hydrocephalus.. Craniosynostosis. .. Neural tube defects. Failure of the neural tube to close spontaneously . Dr Jacob Twiss Starship Children’ s Health, Auckland, New Zealand Description: Congenital central hypoventilation syndrome (CCHS) is a life long condition characterized by generally adequate alveol Primum non nocereTo the Editor,Several drugs, such as dopamine antagonist antipsychotics, meto Letters to the EditorAnatolian J Cardiol 2015; 15: 77-90 89 .. SOURCE: NCHS, . Health, United States, 2017. , Figure 22. Data from the National Vital Statistics System (NVSS), Linked Birth/Infant Death Data Set. . Infant mortality rates.