List+of+Genetic+Disorders

= __//List of Genetic Disorders //__ =

·  Achromatopsia (inability to see color)

· Adrenal Hypoplasia Congenita (reduction in adrenal gland function)

· Adrenoleukodystrophy (progressive brain damage)

· Aicardi Syndrome (partial or complete absence of a key structure in brain)

· Albinism/Hypopigmentation (no melanin pigment in eyes, skin and hair)

· Alexander Disease (neurodegenerative disease)

· Alpers' Disease (degenerative disease of the central nervous system)

· Alpha-1 Antitrypsin Deficiency (decreased A1AT activity in blood & lungs)

· Alzheimer's (degenerative disease starting with memory loss)

· Amblyopia (poor or indistinct vision)

· Angelman Syndrome (intellectual and developmental delay, seizures)

· Anencephaly (absence of a major portion of the brain, skull, and scalp)

· Aniridia (underdevelopment of the eye's iris)

· Anophthalmia (congenital absence of one or both eyes)

<span style="font-family: 'Comic Sans MS',cursive;">· Ataxia Telangiectasia (immunodeficiency disorder)

<span style="font-family: 'Comic Sans MS',cursive;">· Autism (brain development disorder)

<span style="font-family: 'Comic Sans MS',cursive;">· Bardet-Biedl Syndrome (obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure)

<span style="font-family: 'Comic Sans MS',cursive;">· Barth Syndrome (metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, <span style="font-family: 'Comic Sans MS',cursive;">delayed growth)

<span style="font-family: 'Comic Sans MS',cursive;">· Batten Disease (fatal, autosomal recessive neurodegenerative disorder)

<span style="font-family: 'Comic Sans MS',cursive;">· Best's Disease (progressive vision loss)

<span style="font-family: 'Comic Sans MS',cursive;">· Bipolar Disorder (a category of mood disorders)

<span style="font-family: 'Comic Sans MS',cursive;">· Bloom Syndrome (breaks and rearrangements in the chromosomes)

<span style="font-family: 'Comic Sans MS',cursive;">· Branchio-Oto-Renal (BOR) Syndrome (autosomal disorder of kidneys, ears, and neck)

<span style="font-family: 'Comic Sans MS',cursive;">· Canavan Syndrome (progressive damage to nerve cells in the brain)

<span style="font-family: 'Comic Sans MS',cursive;">· Carnitine Deficiencies (metabolic disorders)

<span style="font-family: 'Comic Sans MS',cursive;">· Cerebral Palsy (physical disability in human development)

<span style="font-family: 'Comic Sans MS',cursive;">· Charcot-Marie-Tooth Disease (loss of muscle tissue and touch sensation)

<span style="font-family: 'Comic Sans MS',cursive;">· Cleft Lip/Cleft Palate (abnormal facial development during gestation)

<span style="font-family: 'Comic Sans MS',cursive;">· Coffin Lowry Syndrome (mental retardation and delayed development)

<span style="font-family: 'Comic Sans MS',cursive;">· Coloboma (hole in one of the structures of the eye)

<span style="font-family: 'Comic Sans MS',cursive;">· Color Blindness

<span style="font-family: 'Comic Sans MS',cursive;">· Congenital Heart Defects

<span style="font-family: 'Comic Sans MS',cursive;">· Congenital Hip Dysplasia (Dislocation)

<span style="font-family: 'Comic Sans MS',cursive;">· Connective Tissue Disorders

<span style="font-family: 'Comic Sans MS',cursive;">· Cooley's Anemia/ Thalassemia (formation of abnormal haemoglobin molecules)

<span style="font-family: 'Comic Sans MS',cursive;">· Corneal Dystrophy (non-inflammatory, bilateral opacity of cornea)

<span style="font-family: 'Comic Sans MS',cursive;">· Cornelia de Lange Syndrome (severe developmental anomalies)

<span style="font-family: 'Comic Sans MS',cursive;">· Cystic Fibrosis (progressive disability due to multisystem failure)

<span style="font-family: 'Comic Sans MS',cursive;">· Cystinosis (autosomal recessive disorder of the renal tubules)

<span style="font-family: 'Comic Sans MS',cursive;">· Developmental Disabilities

<span style="font-family: 'Comic Sans MS',cursive;">· Diabetes

<span style="font-family: 'Comic Sans MS',cursive;">· Down Syndrome (impairment of cognitive ability, physical growth & facial appearance)

<span style="font-family: 'Comic Sans MS',cursive;">· Duane Syndrome (inability of the eye to turn out)

<span style="font-family: 'Comic Sans MS',cursive;">· Ehlers-Danlos Syndrome (defect in collagen synthesis)

<span style="font-family: 'Comic Sans MS',cursive;">· Epidermolysis Bullosa (extremely fragile skin & recurrent blister formation)

<span style="font-family: 'Comic Sans MS',cursive;">· Familial Dysautonomia (disorder of the autonomic nervous system)

<span style="font-family: 'Comic Sans MS',cursive;">· Familial Mediterranean Fever (inflammatory disorder)

<span style="font-family: 'Comic Sans MS',cursive;">· Fanconi Anemia (short stature, skeletal anomalies, bone marrow failure)

<span style="font-family: 'Comic Sans MS',cursive;">· Fibrodysplasia Ossificans Progressiva (disease of the connective tissue)

<span style="font-family: 'Comic Sans MS',cursive;">· Fragile X Syndrome (X-linked mental retardation)

<span style="font-family: 'Comic Sans MS',cursive;">· G6PD (Glucose-6-Phosphate Dehydrogenase) Deficiency Anemia

<span style="font-family: 'Comic Sans MS',cursive;">· Galactosemia (inefficient metabolism of the sugar galactose0

<span style="font-family: 'Comic Sans MS',cursive;">· Gaucher Disease (deficiency of the enzyme glucocerebrosidase)

<span style="font-family: 'Comic Sans MS',cursive;">· Gilbert's Syndrome (high levels of unconjugated bilirubin in bloodstream)

<span style="font-family: 'Comic Sans MS',cursive;">· Glaucoma (diseases of the optic nerve)

<span style="font-family: 'Comic Sans MS',cursive;">· Hemochromatosis (excessive absorption of dietary iron)

<span style="font-family: 'Comic Sans MS',cursive;">· Hemoglobin C Disease (abnormal hemoglobin)

<span style="font-family: 'Comic Sans MS',cursive;">· Hemophilia/Bleeding Disorders (inefficient control over blood clotting or coagulation)

<span style="font-family: 'Comic Sans MS',cursive;">· Hirschsprung's Disease (enlargement of the colon)

<span style="font-family: 'Comic Sans MS',cursive;">· Homocystinuria (disorder of the metabolism of the amino acid methionine)

<span style="font-family: 'Comic Sans MS',cursive;">· Huntington's Disease (abnormal body movements)

<span style="font-family: 'Comic Sans MS',cursive;">· Hurler Syndrome (deficiency of alpha-L iduronidase)

<span style="font-family: 'Comic Sans MS',cursive;">· Klinefelter Syndrome (small testicles and reduced fertility)

<span style="font-family: 'Comic Sans MS',cursive;">· Krabbe Disease (fatal degenerative disorder of nervous system)

<span style="font-family: 'Comic Sans MS',cursive;">· Leber Congenital Amaurosis (loss of vision)

<span style="font-family: 'Comic Sans MS',cursive;">· Leukodystrophies (progressive degeneration of the white matter of brain)

<span style="font-family: 'Comic Sans MS',cursive;">· Long Q-T Syndrome (heart problem)

<span style="font-family: 'Comic Sans MS',cursive;">· Macular Degeneration (loss of central vision)

<span style="font-family: 'Comic Sans MS',cursive;">· Marfan Syndrome (disorder of the connective tissue)

<span style="font-family: 'Comic Sans MS',cursive;">· Marshall-Smith Syndrome (unusual accelerated skeletal maturation)

<span style="font-family: 'Comic Sans MS',cursive;">· McCune-Albright Syndrome (disorder of bones, hormones & skin pigmentation)

<span style="font-family: 'Comic Sans MS',cursive;">· Menkes Disease (disorder that affects copper levels in the body)

<span style="font-family: 'Comic Sans MS',cursive;">· Metabolic Disorders

<span style="font-family: 'Comic Sans MS',cursive;">· Mitochondrial Disease

<span style="font-family: 'Comic Sans MS',cursive;">· Mucolipidoses

<span style="font-family: 'Comic Sans MS',cursive;">· Mucopolysaccharide Disorders

<span style="font-family: 'Comic Sans MS',cursive;">· Muscular Dystrophy (progressive muscle weakness)

<span style="font-family: 'Comic Sans MS',cursive;">· Neonatal Onset Multisystem Inflammatory Disease (uncontrolled inflammation in multiple parts of the body)

<span style="font-family: 'Comic Sans MS',cursive;">· Neurofibromatosis (grow of tumors in nerve cells - Schwann cells)

<span style="font-family: 'Comic Sans MS',cursive;">· Niemann-Pick Disease (disorder affecting lipid metabolism)

<span style="font-family: 'Comic Sans MS',cursive;">· Noonan Syndrome (heart malformation, short stature, learning problems)

<span style="font-family: 'Comic Sans MS',cursive;">· Optic Atrophy (loss of some or most of the fibers of the optic nerve)

<span style="font-family: 'Comic Sans MS',cursive;">· Osteogenesis Imperfecta (no protein - collagen, or the ability to make it)

<span style="font-family: 'Comic Sans MS',cursive;">· Peutz-Jeghers Syndrome (benign hamartomatous polyps in gastrointestinal tract)

<span style="font-family: 'Comic Sans MS',cursive;">· Phenylketonuria (PKU) (deficiency in enzyme phenylalanine hydroxylase)

<span style="font-family: 'Comic Sans MS',cursive;">· Polycystic Kidney Disease (multiple cysts in both kidneys)

<span style="font-family: 'Comic Sans MS',cursive;">· Pseudoxanthoma Elasticum (fragmentation and mineralization of elastic fibers in tissues)

<span style="font-family: 'Comic Sans MS',cursive;">· Progeria (accelerated aging)

<span style="font-family: 'Comic Sans MS',cursive;">· Ptosis (drooping upper eyelid or breasts)

<span style="font-family: 'Comic Sans MS',cursive;">· Rentinitis Pigmentosa

<span style="font-family: 'Comic Sans MS',cursive;">· Scheie Syndrome (absence or malfunctioning of lysosomal enzymes)

<span style="font-family: 'Comic Sans MS',cursive;">· Schizophrenia (impairments in the perception or expression of reality)

<span style="font-family: 'Comic Sans MS',cursive;">· Severe Combined Immunodeficiency (SCID) (crippling of adaptive immune system)

<span style="font-family: 'Comic Sans MS',cursive;">· Sickle Cell Anemia (abnormal, rigid, sickle shape of red blood cells)

<span style="font-family: 'Comic Sans MS',cursive;">· Skeletal Dysplasias (abnormal bone and cartilage development)

<span style="font-family: 'Comic Sans MS',cursive;">· Smith-Magenis Syndrome (developmental disorder)

<span style="font-family: 'Comic Sans MS',cursive;">· Spherocytosis (production of bi-concave disk shaped red blood cells)

<span style="font-family: 'Comic Sans MS',cursive;">· Spina Bifida (incompletely formed spinal cord)

<span style="font-family: 'Comic Sans MS',cursive;">· Spinocerebellar Ataxia (progressive in-coordination of gait)

<span style="font-family: 'Comic Sans MS',cursive;">· Stargardt Disease (Macular Degeneration) (progressive vision loss)

<span style="font-family: 'Comic Sans MS',cursive;">· Stickler Syndrome (disorders affecting connective tissue, mainly collagen)

<span style="font-family: 'Comic Sans MS',cursive;">· Tay-Sachs Disease (usually affects nervous tissue of the brain)

<span style="font-family: 'Comic Sans MS',cursive;">· Treacher Collins Syndrome (craniofacial deformities)

<span style="font-family: 'Comic Sans MS',cursive;">· Tuberous Sclerosis (causes benign tumors in various body parts)

<span style="font-family: 'Comic Sans MS',cursive;">· Turner's Syndrome (only one X chromosome in each cell of a female)

<span style="font-family: 'Comic Sans MS',cursive;">· Urea Cycle Disorder (deficiency of one of the enzymes in the urea cycle causing irreversible brain damage and/or death)

<span style="font-family: 'Comic Sans MS',cursive;">· Usher's Syndrome (deafness and a gradual vision loss)

<span style="font-family: 'Comic Sans MS',cursive;">· Velocardiofacial Syndrome (deletion of a small piece of chromosome 22)

<span style="font-family: 'Comic Sans MS',cursive;">· von Hippel-Lindau Disease (abnormal growth of tumors in body parts)

<span style="font-family: 'Comic Sans MS',cursive;">· Werner Syndrome (premature aging)

<span style="font-family: 'Comic Sans MS',cursive;">· Williams Syndrome ("elfin" facial appearance, with a low nasal bridge)

<span style="font-family: 'Comic Sans MS',cursive;">· Xeroderma Pigmentosum (deficient ability to repair damage caused by ultraviolet (UV) light)

<span style="font-family: 'Comic Sans MS',cursive;">· XXX Syndrome (an extra X chromosome in each cell of a female)

<span style="font-family: 'Comic Sans MS',cursive; font-size: 90%;">· XYY Syndrome (an extra Y chromosome in each cell of a male)

<span style="font-family: 'Comic Sans MS',cursive; font-size: 90%;">list provided by: []