EXAM+4+PATHOPHYS

Achondroplasia

Albinism

Angleman’s syndrome (aka Happy Puppet Syndrome)

Anhidrotic extodermal dysplasia

Aniridia

Ataxia Telangiectasia

Becker Muscular Dystrophy (see DMD)

Bloom’s syndrome

Bruton’s agammaglobulinemia

Campomelic dysplasia

Chronic atrophic gastritis – see pernicious anemia

Complete Androgen Insensitivity Syndrome (Testicular Feminization)

Congenital Adrenal Hyperplasia

Craniosynostosis

Cri du Chat syndrome

Cystic Fibrosis

DiGeorge anomaly of brachial arch defects (related to the other DiGeorge stuff below???)

DiGeorge Velocardiofacial syndrome

Down syndrome – see trisomy 21

Duchene muscular dystrophy (DMD)

Edward’s syndrome – see trisomy 18

Emphysema

Faconi Anemia

Factor V Leiden Trhombophilia

Fetal Alcohol syndrome

Fetal Dilantin syndrome

Folate deficiency

Fragile X syndrome

Galactosemia

Gout

Hand-foot-genital syndrome

Hereditary Hemochromatosis

Hemophilia A

Hereditary Orotic Anemia

Hermaphroditism (2 classifications)

Heterogeneous Nonpolyposis Colon Cancer

HIV (Human Immunodeficiency Virus)

Homocystinuria

Huntington’s Disease

Hyperammonemia

Hyperphenylalaninemia

Hyperuricemia

Human Heavy Chain Diseases (HCDs)

Kearns-Sayre syndrome

Klinefelter syndrome

Lesch-Nyhan Syndrome

Marfan Syndrome

Maternal Diabetes

Medium chain acyl CoA dehydrogenase (MCAD) deficiency

Megaloblastic Anemia

Melanoma

Mucopolysaccharidoses

Myotonic dystrophy

Neurofibromatosis Type I

Neural tube defects

Non-Syndromic Deafness

Noonan Syndrome

Osteogenesis Imperfecta

Patau syndrome – see trisomy 13

Pearson’s Syndrome

Pernicious anemia

Phenylketonuria (PKU) WEB RESULTS

Phocomelia

Prader-Willi Syndrome (PWS)

Purine Nucleoside Phosphorylase Deficiency

Retinoic Acid Embryopathy

Sanfilippo syndrome

Severe Combined Immunodeficiency Syndrome (SCIDS)

Situs Inversus

Skeletal dysplasia

Synpolydactyly

Tay-Sachs

Telomerase (in aging and cancer)

Tetraploidy

Thalassemia

Thalidomide embryopathy

Triploidy

Trisomy 13 (Patau syndrome)

Trisomy 18 (Edward’s syndrome)

Trisomy 21 (Down Syndrome)

Turner syndrome

UV Light Damage

Waardenburg Syndrome

Werner’s syndrome

William’s Syndrome

Xanthinuria

X-linked dominant hypophosphatemia (aka Vitamin D deficient Rickets)

Xeroderma Pigmentosum