http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/PEDIATRIC_GENETICS.asp A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions. en-us 2012-02-18T15:00:37.0000000+05:30 http://www.pediatriconcall.com/rss_media/rss_Genetic-Disorders_rss.jpg http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/PEDIATRIC_GENETICS.asp A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/PEDIATRIC_GENETICS.asp 2012-02-18T00:00:00.0000000+05:30 Fragile X syndrome is a common cause of mental retardation. The incidence has been estimated at approximately 1 in 1,500 males and 1 in 2,500 females. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/fragile_x.asp 2007-04-30T00:00:00.0000000+05:30 Achondroplasia is derived from Greek and it means "without cartilage formation". Though patients with achondroplasia have cartilage, only a small amount of cartilage in the growth plates of the long bones turns into bone and short stature. It is the most common type of disproportionate short stature. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/achondroplasia.asp 2007-04-28T00:00:00.0000000+05:30 Tuberous sclerosis is a complex genetic disorder (a disease that occurs due to some defect in the genes) that is characterized by skin lesions, nervous system affectation and renal involvement primarily. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/tuberous_sclerosis.asp 2007-04-28T00:00:00.0000000+05:30 Porphyrias are a heterogeneous group of either inherited or acquired disorders of heme biosynthesis which cause either skin problems or a condition known as acute attack. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/porphyrias.asp 2007-04-30T00:00:00.0000000+05:30 Turner's syndrome is a genetic disorder characterized by predominantly short stature in girls. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/turner_syndrome.asp 2007-04-28T00:00:00.0000000+05:30 Phenylketonuria is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase that is responsible for processing the essential amino acid phenylalanine and leads to elevated levels of phenylalanine and phenylalanine metabolites. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/pku.asp 2007-04-28T00:00:00.0000000+05:30 Many fetuses with Down syndrome are now prenatally diagnosed by karyotyping done because of advanced maternal age or abnormal triple screen test or fetal ultrasonographic findings. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/clinical_features.asp 2007-04-30T00:00:00.0000000+05:30 Down's syndrome need a thorough physical examination. The newborn examination should include neurologic and neurobehavioral assessments. Routine screening tests should be carried out in the newborn period, such as screening for certain inborn errors of metabolism and hypothyroidism. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/approach_to_a_case_of_down.asp 2007-04-30T00:00:00.0000000+05:30 Because of the morbidity associated with Down syndrome, screening and diagnostic testing for this condition are offered as optional components of prenatal care. Prenatal diagnosis of trisomy 21 allows parents the choice of continuing or terminating an affected pregnancy. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/GENETIC_DISORDERS/downsyndrome_pre.asp 2007-04-30T00:00:00.0000000+05:30