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Archive for the ‘Genetic Disorders’ Category

  • What is familial cirrhosis
  • What is familial disease
  • What is familial dysautonomia (Riley-Day syndrome)
  • What is familial juvenile polyposis
  • What is familial Hibernian fever (FHF; Tumor Necrosis Factor Receptor-Associated Periodic Syndrome; TRAPS)
  • What is familial Mediterranean fever
  • What is familial nephritis (Alport syndrome)
  • What is Fanconi anemia (Fanconi pancytopenia)
  • What is favism
  • What is febrile seizures
  • What is hereditary elliptocytosis
  • What is fetal aminopterin syndrome
  • What is fetal alcohol syndrome (FAS)
  • What is fetal surgery
  • What is fetal imaging
  • What is fetoscopy
  • What is fetal tissue sampling
  • What is FG syndrome
  • What is fetus
  • What is fifth disease
  • What is fibrodysplasia ossificans progressiva, FOP (myo-sitis ossificans)
  • What is Finnish diseases
  • What is hereditary essential tremor
  • What is FLK syndrome
  • What is fish odor syndrome (trimethylaminuria)
  • What is floppy infant
  • What is Rubella
  • What is fluorescence in situ hybridization (FISH)
  • What is Herpes Simplex Virus (HSV)
  • What is Cytomegalovirus (CMV)
  • What is histidinemia
  • What is hirsutism
  • What is Hirschsprung disease (colon aganglionosis)
  • What is Holt Oram syndrome (heart hand syndrome)
  • What is holoprosencephaly
  • What is homocystinuria
  • What is founder effect
  • What is horseshoe kidney
  • What is humeroradial synostosis
  • What is human leukocyte antigen, HLA (major histo-compatibility complex)
  • What is Huntington chorea (Huntington disease, HD)
  • What is humpback, hunchback
  • What is hydrocephalus
  • What is hyperinsulinism
  • What is hyperphosphatasia (hyperostosis corticalis defor-
  • What is hypermobility
  • What is hypertelorism
  • What is fragile site
  • What is hypochondroplasia
  • What is hypophosphatemia (X-linked hypophosphatemia; X-linked vitamin D–resistant rickets)
  • What is hypophosphatasia
  • What is Iceland
  • What is hypospadias
  • What is immune deficiency diseases
  • What is ichthyosis
  • What is imperforate hymen
  • What is imperforate anus
  • What is imprinting (genomic imprinting)
  • What is fragile X associated tremor ataxia syndrome (FXTAS)
  • What is indifference to pain (congenital analgesis)
  • What is incontinentia pigmenti
  • What is infantile autism
  • What is infantile osteopetrosis
  • What is infantile subacute necrotizing encephalopathy of Leigh
  • What is infertility
  • What is inguinal hernia
  • What is intestinal atresia or stenosis
  • What is intracytoplasmic sperm injection (ICSI-assisted reproduction)
  • What is intrauterine growth retardation (IUGR)
  • What is fragile X syndrome
  • What is jaw winking syndrome (Marcus Gunn syndrome)
  • What is Jackson-Weiss syndrome
  • What is Jeune syndrome (asphyxiating thoracic dyspla-sia)
  • What is Jervell and Lange-Nielsen syndrome (cardioaudi-tory syndrome; deafness and functional heart disease)
  • What is Job syndrome (hyperimmunoglobulin E)
  • What is Jewish genetic disease
  • What is Joubert syndrome
  • What is Jumping Frenchmen of Maine
  • What is Kabuki syndrome (Kabuki makeup syndrome)
  • What is hereditary spastic paraplegia (HSP) (familial spastic paraparesis; Strumpell-Lorrain syndrome)
  • What is Friedreich’s ataxia
  • What is Kartagener syndrome (immotile cilia syndrome)
  • What is Kallmann syndrome
  • What is Kennedy disease
  • What is karyotype
  • What is kleeblattschadel anomaly (cloverleaf skull)
  • What is Klippel-Trenaunay-Weber syndrome
  • What is Klippel-Feil sequence
  • What is Kniest dysplasia
  • What is Krabbe disease (globoid cell leukodystrophy, GLD)
  • What is frontometaphyseal dysplasia
  • What is lactic acidosis (congenital infantile lactic acidosis)
  • What is lactose intolerance
  • What is Langer-Giedion syndrome
  • What is Larsen syndrome
  • What is laryngomalacia
  • What is lead
  • What is Leber hereditary optic neuropathy (Leber optic atrophy)
  • What is Leber’s congenital amaurosis (LCA)
  • What is lecithin: cholesterol acyltransferase (LCAT) deficiency (Norum disease)
  • What is leprechaunism (Donahue syndrome)
  • What is fructose intolerance (fructose-1-phosphate aldol-ase deficiency)
  • What is leukodystrophy
  • What is Lesch-Nyhan disease
  • What is Li-Fraumeni syndrome
  • What is lipodystrophy, HIV
  • What is lip pits or mounds
  • What is lipogranulomatosis (Farber lipogranulomatosis)
  • What is lissencephaly
  • What is live birth
  • What is localized absence of skin (aplasia cutis congen-ita)
  • What is locus; loci (pl.)
  • What is fucosidosis
  • What is low birth weight
  • What is Lowe syndrome
  • What is lupus (lupus erythematosus, LE; discoid lupus erythematosus; systemic lupus erythematosus,
  • What is McCune-Albright syndrome
  • What is Lyme disease
  • What is macroglossia
  • What is madarosis
  • What is Madelung deformity
  • What is malignant hyperthermia, MH (hyperthermia of anesthesia; King syndrome)
  • What is male pattern baldness
  • What is manic-depression (manic-depressive psychosis;
  • What is galactokinase deficiency
  • What is mannosidosis
  • What is maple syrup urine disease
  • What is Marden-Walker syndrome
  • What is Marfan syndrome
  • What is marijuana
  • What is MASS syndrome
  • What is MCAD deficiency (Medium-chain acyl-CoA dehydro genase)
  • What is measles (rubeola)
  • What is galactosemia
  • What is Meckel syndrome (Gruber syndrome)
  • What is medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • What is median cleft face syndrome
  • What is Melnick-Needles syndrome
  • What is meningocele
  • What is Mendelian
  • What is mental retardation
  • What is mesomelic dysplasia (mesomelic dwarfism)
  • What is metaphyseal chondrodysplasia
  • What is metachromatic leukodystrophy (MLD)
  • What is gallbladder anomalies
  • What is metatropic dysplasia (metatropic dwarfism)
  • What is methylation (DNA methylation)
  • What is methylmalonic acidemia
  • What is Michelin tire baby syndrome
  • What is microarray (DNA microarray technology)
  • What is microdeletion 1p36 (monosomy 1p36)
  • What is microcephaly
  • What is middle-ear infections (otitis media)
  • What is midget
  • What is migraine headaches
  • What is gastroschisis
  • What is Miller-Dieker syndrome (lissencephaly syndrome)
  • What is Minimata disease
  • What is mitochondrial diseases (Kearns-Sayre syndrome; MELAS syndrome; MERRF syndrome)
  • What is miryachit
  • What is mitochondrial inheritance
  • What is Moebius sequence (congenital facial diplegia)
  • What is mongolian spots
  • What is monilethrix
  • What is mongolism
  • What is Mormon
  • What is Gaucher disease (GD)
  • What is Mowat-Wilson syndrome
  • What is mosaicism
  • What is mucolipidosis (ML)
  • What is mucopolysaccharidosis (MPS)
  • What is multifactorial
  • What is multiple births
  • What is multiple epiphyseal dysplasia
  • What is multiple endocrine neoplasias (MEN)
  • What is multiple exostoses
  • What is multiple lentigines syndrome (LEOPARD syndrome)
  • What is multiple pterygium syndrome (Escobar syndrome)
  • What is multiple sclerosis (MS)
  • What is mutagen
  • What is mutation
  • What is myasthenia gravis (MG)
  • What is myotonic dystrophy (Steinert disease)
  • What is myopia
  • What is myotubular myopathy
  • What is Naegeli syndrome
  • What is heredity
  • What is nail-patella syndrome
  • What is Nager syndrome
  • What is natal teeth
  • What is narcolepsy (narcoleptic syndrome)
  • What is nephrogenic diabetes insipidus (NDI)
  • What is nemaline myopathy
  • What is neural tube defects (NTD)
  • What is Neu-Laxova syndrome
  • What is neuraminidase deficiency (sialidosis, mucolipipi-dosis I)
  • What is neuronal ceroid lipofuscinosis (NCL; Batten disease)
  • What is neurofibromatosis (NF; von Recklinghausen disease)
  • What is nevus
  • What is nevoid basal cell carcinoma syndrome (basal cell nevus syndrome; Gorlin syndrome)
  • What is night blindness (nyctalopia)
  • What is Niemann-Pick disease
  • What is nonketotic hyperglycinemia
  • What is Norrie disease
  • What is Noonan syndrome
  • What is nuchal translucency screening (nuchal fold scan)
  • What is genetic code
  • What is nucleoside phosphorylase deficiency
  • What is oculo-dento-digital dysplasia
  • What is obesity
  • What is oncogene
  • What is omphalocele
  • What is Opitz G/BBB syndrome (Opitz-Frias syndrome; hypertelorism-hypospadias syndrome)
  • What is Ondine’s curse (congenital central hypoventila-tion syndrome)
  • What is oral-facial-digital syndrome (OFD syndrome)
  • What is Osler-Weber-Rendu syndrome (hereditary hem-orrhagic telangiectasia, HHT)
  • What is organic acidemia, organic aciduria
  • What is genetic counseling
  • What is osteogenesis imperfecta (OI; brittle bone disease)
  • What is oto-palato-digital syndrome (Taybi syndrome;
  • What is otosclerosis
  • What is Pallister-Killian syndrome
  • What is overgrowth syndromes
  • What is All cases have appeared to be SPORADIC. Definitive diagnosis is made through genetic analysis. The KARYOTYPE of peripheral lymphocytes may be normal, but tetrasomy for 12p is seen in cultured fibroblasts and direct analysis of bone marrow. A number of other malformations may also be seen. A large nu
  • What is papyraceous fetus
  • What is paramyotonia congenita (Eulenburg disease)
  • What is paraplegia
  • What is Parkinson’s disease (Parkinsonism)
  • What is passive euthanasia
  • What is genetic disorder
  • What is pedigree
  • What is pectus
  • What is Pendred syndrome
  • What is Pelizaeus-Merzbacher disease
  • What is penetrance
  • What is Peyronie disease (bent stick syndrome)
  • What is periodic paralysis, familial
  • What is Pfeiffer syndrome (acrocephalosyndactyly)
  • What is phakomatosis (neurodermatosis)
  • What is phenobarbital
  • What is genetic linkage
  • What is phenylketonuria
  • What is phenotype
  • What is phocomelia
  • What is phenylthiocarbamide tasting
  • What is Pickwickian syndrome (obesity-hypoventilation syn
  • What is piebald skin trait
  • What is pituitary dwarfism
  • What is pleiotropy
  • What is Poland sequence (Poland syndactyly)
  • What is polycystic kidney disease (PKD)
  • What is polygenic
  • What is polydactyly
  • What is polymastia
  • What is polymorphism
  • What is polysyndactyly
  • What is polysplenia syndrome
  • What is porencephaly
  • What is porphyria
  • What is genetic markers
  • What is port wine stain
  • What is Prader-Willi syndrome (PWS)
  • What is post-term pregnancy
  • What is preimplantation diagnosis
  • What is precocious puberty
  • What is prenatal diagnosis
  • What is prematurity
  • What is pretzel syndrome
  • What is prion disease
  • What is progeria (Hutchinson-Gilford progeria syndrome)
  • What is proband
  • What is propionic acidemia
  • What is genetics
  • What is protective exclusion
  • What is prostate cancer
  • What is proteus syndrome
  • What is proteomics
  • What is prune-belly syndrome
  • What is pseudoxanthoma elasticum
  • What is pseudohermaphroditism
  • What is psoriasis
  • What is genetic screening
  • What is ptosis
  • What is pygmy
  • What is pycnodysostosis
  • What is pyloric stenosis
  • What is pyruvate dehydrogenase deficiency
  • What is pyruvate carboxylase deficiency
  • What is quinacrine
  • What is pyruvate kinase deficiency
  • What is radial defects
  • What is quinine
  • What is genodermatosis
  • What is radiation
  • What is Raynaud disease
  • What is radioulnar synostosis
  • What is hermaphrodite (hermaphroditism)
  • What is Refsum disease (phytanic acid storage disease)
  • What is recombinant DNA (gene splicing)
  • What is respiratory distress syndrome (RDS)
  • What is restless legs syndrome
  • What is retinitis pigmentosa (RP)
  • What is restriction enzyme (restriction fragment length polymorphism, RFLP)
  • What is retinopathy of prematurity, ROP (retrolental fibroplasia, RLF)
  • What is retinoblastoma
  • What is genome
  • What is Rett syndrome
  • What is rheumatoid arthritis (RA)
  • What is rickets
  • What is ribonucleic acid (RNA)
  • What is RNA interference (RNAi)
  • What is Rieger syndrome
  • What is Robin anomaly (Pierre Robin syndrome)
  • What is Roberts syndrome (pseudothalidomide syndrome; SC syndrome)
  • What is Robinow syndrome (fetal face syndrome)
  • What is Romano-Ward syndrome (prolonged QT interval)
  • What is genotype
  • What is Rothmund-Thomson syndrome (RTS; poikilo-derma atrophicans and cataract)
  • What is Russell-Silver syndrome
  • What is Rubinstein-Taybi syndrome
  • What is Ruvalcaba syndrome
  • What is sacrococcygeal teratoma
  • What is Salla disease (Finnish type sialuria)
  • What is Saethre-Chotzen syndrome
  • What is Sandhoff disease
  • What is Schimke immuno-osseous dysplasia (SIOD; spon-dylo-epiphyseal dysplasia)
  • What is Schinzel-Gideon syndrome
  • What is gigantism
  • What is scleroderma
  • What is Schwartz-Jampel syndrome
  • What is scoliosis
  • What is Senior-Loken syndrome
  • What is Seckel syndrome (bird-headed dwarfism)
  • What is sex limited
  • What is sex chromosome
  • What is Shwachman syndrome (metaphyseal dysplasia with pancreatic insufficiency and neutropenia)
  • What is SHOX (short stature homeobox)
  • What is sibling (sib)
  • What is Gilbert disease
  • What is sickle-cell anemia
  • What is simian crease
  • What is situs inversus
  • What is sirenomelia
  • What is Smith-Lemli-Opitz syndrome
  • What is SNP (singular nucleotide polymorphism)
  • What is Sotos syndrome (cerebral gigantism)
  • What is sphingolipidosis
  • What is spina bifida
  • What is glucose-6-phosphate dehydrogenase deficiency (G6PD)
  • What is spinal muscular atrophy (SMA)
  • What is spinocerebellar ataxia (SCA; spinocerebellar atrophy; olivopontocerebellar atrophy, OPCA)
  • What is spondyloepiphyseal dysplasia
  • What is spondylometaphyseal chondrodysplasia
  • What is spondylothoracic dysplasia (Jarcho-Levin syndrome; spondylocostal dysostosis)
  • What is sporadic
  • What is Sprengel deformity (high scapula)
  • What is Stargardt disease
  • What is Stein-Leventhal syndrome
  • What is glutaric aciduria
  • What is Stickler syndrome (hereditary progressive arthro-ophthalmopathy)
  • What is stiff man syndrome
  • What is stillbirth
  • What is storage disease
  • What is strabismus
  • What is Sturge-Weber syndrome
  • What is subtelomeric probes
  • What is stuttering (stammering)
  • What is supernumerary teeth
  • What is sudden infant death syndrome (SIDS; crib death)
  • What is sweaty feet syndrome (isovaleric acidemia)
  • What is gluten-induced enteropathy (celiac disease; celiac sprue)
  • What is syndrome
  • What is syndactyly
  • What is syphilis
  • What is synophrys
  • What is Tangier disease (analphalipoproteinemia)
  • What is tandem mass spectrometry
  • What is Tay-Sachs disease (TSD)
  • What is TAR syndrome (thrombocytopenia-aplasia of radius syndrome)
  • What is glycogen storage disease (GSD)
  • What is teratogen
  • What is tetrahydrobiopterin deficiencies
  • What is testicular feminization syndrome (androgen insensitivity syndrome, AIS; complete androgen insensitivity)
  • What is thalassemia (Cooley’s anemia; Mediterranean anemia)
  • What is tetralogy of Fallot
  • What is thanatophoric dwarfism
  • What is thalidomide
  • What is thrombasthenia of Glanzmann and Naegeli (Glan-zmann thrombasthenia, GTA)
  • What is Thomsen disease (Thomsen-Becker myotonia; myotonia congenita)
  • What is thumb sign
  • What is Tom Thumb
  • What is tongue folding or rolling
  • What is GM1 gangliosidosis
  • What is TORCH syndrome
  • What is tooth-and-nail syndrome (dysplasia of the nails
  • What is Tourette syndrome (Gilles de la Tourette syndrome)
  • What is tracheoesophageal fistula
  • What is Townes Brocks syndrome
  • What is Treacher Collins syndrome (mandibulo-facial dysostosis)
  • What is transcription factor
  • What is trinucleotide repeat disorders
  • What is trichorhinophalangeal syndrome
  • What is heterochromia irides
  • What is Goldenhar syndrome (oculo-auricular-vertebral dysplasia; hemifacial microsomia)
  • What is triploidy
  • What is trisomy
  • What is Turcot syndrome
  • What is Turner syndrome
  • What is tyrosinemia
  • What is twins
  • What is ultrasound (ultrasonography)
  • What is unilateral renal agenesis
  • What is uniparental disomy
  • What is Usher syndrome (retinitis pigmentosa and congenital deafness)
  • What is Goltz syndrome (focal dermal hypoplasia)
  • What is urea cycle defects
  • What is Van der Woude syndrome
  • What is varicella (chicken pox; congenital varicella syndrome)
  • What is video display terminals (VDTs)
  • What is VATER association
  • What is vitiligo
  • What is von Willebrand disease
  • What is von Hippel–Lindau syndrome (VHL)
  • What is goniodysgenesis
  • What is Waardenburg syndrome (WS)
  • What is Walt Disney dwarfism (geroderma osteodysplas-tica)
  • What is warfarin embryopathy
  • What is wandering spleen
  • What is whistling face syndrome (Freeman Sheldon syndrome; craniocarpotarsal dysplasia)
  • What is Werner syndrome (WS)
  • What is Wilms tumor
  • What is Williams syndrome (elfin facies with hypercalce-mia)
  • What is Wilson disease (hepatolenticular degeneration)
  • What is Wiskott-Aldrich syndrome
  • What is Wolf-Hirschhorn syndrome (4p-)
  • What is gout
  • What is X chromosome
  • What is Wolman disease
  • What is xeroderma pigmentosum
  • What is X inactivation
  • What is X-linked (sex-linked)
  • What is XX male syndrome (sex reversal)
  • What is XY syndrome
  • What is XXXXY
  • What is Grebe chondrodysplasia
  • What is XYY syndrome
  • What is Y chromosome
  • What is Zellweger syndrome (cerebro-hepatorenal syndrome, CHRS)
  • What is zygodactyly
  • What is Zollinger-Ellison syndrome
  • What is abortion
  • What is abetalipoproteinemia (Bassen-Kornzweig syndrome)
  • What is acanthosis nigricans
  • What is absent testes (anorchia)
  • What is Accutane
  • What is acatalasia (acatalasemia; Takahara’s disease)
  • What is acetylator phenotype
  • What is Greig cephalopolysyndactyly syndrome (GCPS)
  • What is achondrogenesis
  • What is achondroplasia
  • What is ACHOO syndrome (autosomal dominant compelling heliophthalmic outburst syndrome)
  • What is acne (acne vulgaris)
  • What is achromatopsia
  • What is acrocentric
  • What is acro osteolysis
  • What is adrenogenital syndromes (congenital adrenal hyperplasia, CAH)
  • What is Adam and Eve
  • What is adrenoleukodystrophy (ALD)
  • What is age-related macular degeneration
  • What is Agent Orange
  • What is AIDS (acquired immunodeficiency syndrome)
  • What is Aicardi syndrome
  • What is Alagille syndrome (arteriohepatic dysplasia; Watson-Alagille syndrome)
  • What is Albright hereditary osteodystrophy (pseudo-hypoparathyroidism)
  • What is albinism
  • What is Alexander disease
  • What is alcoholism
  • What is alkaptonuria
  • What is gynecomastia
  • What is allergy
  • What is allele
  • What is alpha-fetoprotein (AFP)
  • What is alopecia
  • What is Alpha-Thalassemia X-Linked Mental Retardation
  • What is alpha-1-antitrypsin deficiency (AAT deficiency)
  • What is Alzheimer’s disease (AD)
  • What is Alstrom syndrome
  • What is gyrate atrophy
  • What is ambiguous genitalia
  • What is amelogenesis imperfecta
  • What is Amish
  • What is amniotic band syndrome (ADAM complex)
  • What is amniocentesis
  • What is amyloidosis
  • What is amniotic fluid
  • What is anemia
  • What is anencephaly
  • What is hairy ear
  • What is aneuploidy
  • What is Angelman syndrome (AS; happy puppet syndrome)
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