Von Hippel-Lindau Disease
- Chromosome 3
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
Renal Cell Carcinoma Characteristics
- Chromosome 3
- VHL Gene
- Proximal Convoluted Tubule
- Smoking
- Nephrolithiasis
- Chronic Analgesic Use
- Clear Cell
- Papillary
- Chromophobic
Autosomal Dominant Polycystic Kidney Disease
- Autosomal Dominant
- Mutations in PKD1/2
- Cystic Enlargement of Renal Tubules
- Chronic Kidney Disease
- Hypertension
- Mitral Valve Prolapse
- Hepatic Cysts
- Berry (Saccular) Aneurysms
Achondroplasia
- Autosomal Dominant
- Advanced Paternal Age
- Most Common Cause of Dwarfism
- Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
- Defective Endochondral Ossification
- Delayed Motor Milestones
- Shortened Limbs with Normal Axial Skeleton Size
- May Develop Hydrocephalus
- Symptoms of Spinal Stenosis
- Normal Life Span and Fertility
Huntington's Disease
- Autosomal Dominant
- Trinucleotide Repeat
- CAG Repeats
- Chromosome 4
- Anticipation
- Caudate
- Decrease of ACh
- Decrease of GABA
- Chorea
- Dementia
- Depression
- Glutamate Toxicity
- Neuronal Death via NMDA Binding
Familial Adenomatous Polyposis
- Autosomal Dominant
- Mutation in Chromosome 5
- APC Gene Mutation
- Overexpression of Beta-catenin
- Two-Hit Hypothesis
- Change in Bowel Habits
- Colonic Polyps
- Colonoscopy
- Prophylactic Surgery
- Progresses to Colorectal Carcinoma
Hemochromatosis Pathophysiology
- Hemosiderin Deposition
- Autosomal Recessive
- HLA-A3
- Secondary to Transfusion Therapy
- Increase Iron
- Increase Ferritin
- Increased Transferrin Saturation
Williams Syndrome
- Microdeletion Of Long Arm Of Chromosome 7
- Elastin Gene
- Elfin Facies
- Intellectual Disability
- Extreme Friendliness with Strangers
- Well Developed Verbal Skills
- Cardiovascular Problems
- Hypercalcemia
- Increased Sensitivity To Vitamin D
Cystic Fibrosis Mechanisms
- Autosomal Recessive
- CFTR Chromosome 7
- Cl- channel Defect
- Decreased Chloride Secretion
- Increased Na and Water Reabsorption
- Increased Na and Cl in Sweat
- Dehydration of Mucous Layers
Friedreich's Ataxia
- Trinucleotide Repeat
- GAA Repeat
- Frataxin
- Mitochondrial Dysfunction
- Autosomal Recessive
- Hammertoes
- High Arches
- Kyphoscoliosis
- Lateral Corticospinal Tract
- Posterior Column
- Spinocerebellar Tract
- Type I Diabetes Mellitus
- Hypertrophic Cardiomyopathy
Tuberous Sclerosis
- Autosomal Dominant
- Hamartomas in CNS and Skin
- Phakoma
- Subependymal Giant Cell Astrocytoma
- Seizures
- Intellectual Disability (Mental Retardation)
- Adenoma Sebaceum
- Shagreen Patch
- Ash-leaf Spots
- Renal Angiomyolipoma
- Cardiac Rhabdomyoma
Wilms' Tumor (Nephroblastoma)
- Malignant Renal Tumor
- Abdominal Mass
- Hematuria
- Fever
- Hypertension
- Nephrectomy
- Chemotherapy
- Radiation
- Do Not Palpate Abdomen
- Children Under 5 Years Old
Sickle Cell Anemia (Mechanism)
- Intrinsic Normocytic Hemolytic Anemia
- Point Mutation
- Autosomal Recessive
- African American
- Dehydration or Decreased O2
- Newborns Asymptomatic
- Heterozygote Malarial Resistance
Beta Thalassemia
- Microcytic, Hypochromic Anemia
- Mediterranean Populations
- Decreased Beta-Globin
- Increased HbA2
- No Intervention
- Blood Transfusions
- Hemochromatosis
- Crew-cut on Skull X-Ray
- Electrophoresis
MEN 1 (Multiple Endocrine Neoplasia)
- Autosomal Dominant
- Menin Mutation (Tumor Suppression Gene)
- Chromosome 11
- Pancreatic Endocrine Tumors
- Pituitary Tumors
- Parathyroid Adenomas
Patau Syndrome
- Trisomy 13
- Severe Intellectual Disability
- Microcephaly
- Holoprosencephaly
- Microphthalmia
- Polydactyly
- Cleft Lip/Cleft Palate
- Rocker Bottom Feet
- Omphalocele
- Cystic Kidneys
- Ventricular Septal Defect (VSD)
Wilson's Disease Pathophysiology
- Autosomal Recessive
- Mutation in ATP7B gene
- Chromosome 13
- Decrease in Ceruloplasmin
- Inadequate copper excretion
- Liver
- Brain
- Kidney
- Cornea
- Joints
- Treat with Penicillamine
Retinoblastoma
- Loss of Heterozygosity
- Chromosome 13
- Children
- Leukocoria
- Strabismus
- Vision Loss
- Osteosarcoma
- Genetic Testing
- Cryotherapy
- Photocoagulation
- Chemotherapy or Radiation
- Surgery
Prader-Willi Syndrome
- Maternal Imprinting
- Deletion of Chromosome 15q (Paternal Deletion)
- Hyperphagia
- Truncal Obesity
- Hypogonadism
- Undescended Testicles (Cryptorchidism)
- Intellectual Disability (Mental Retardation)
- Neonatal Hypotonia (Floppy Baby)
- Almond Shaped Eyes
- Narrow Bifrontal Diameter
- Thin Upper Lip
Angelman's Syndrome
- Paternal Imprinting
- Deletion of Chromosome 15q (Maternal Deletion)
- Happy Puppet Syndrome
- Inappropriate Laughter
- Ataxia
- Severe Intellectual Disability (Mental Retardation)
- Seizure
- Abnormal EEG
Marfan Syndrome
- Fibrillin-1 Mutation
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
Neurofibromatosis Type 1
- Autosomal Dominant
- Chromosome 17
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
Li-Fraumeni Syndrome
- Autosomal Dominant
- TP53 Mutation
- Loss of Heterozygosity
- Osteosarcoma
- Breast Cancer
- Brain Tumors
- Leukemia/Lymphoma
- Adrenocortical Carcinoma
- Supportive Care
Edwards Syndrome
- Trisomy 18
- Intellectual Disability (Mental Retardation)
- Rocker Bottom Feet
- Ventricular Septal Defect (VSD)
- Clenched Hands
- Overlapping Fingers
- Low-Set Ears
- Micrognathia
- Prominent Occiput
- Omphalocele
- Meckel's Diverticulum
- Horseshoe Kidney
- Malrotation of Intestines
Down Syndrome
- Trisomy 21
- Meiotic Nondisjunction
- Intellectual Disability (Mental Retardation)
- Single palmar crease
- Flat Facies
- Duodenal Atresia
- Hirschsprung's Disease
- Septum Primum Type ASD
- Endocardial Cushion Defects
- Prominent Epicanthal Folds
- Increased Risk of Acute Lymphoblastic Leukemia
- Alzheimer's Disease
Neurofibromatosis Type 2
- Autosomal-Dominant
- Chromosome 22
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
Thymic Aplasia (DiGeorge Syndrome)
- DiGeorge Syndrome
- 22q11 Deletion
- Failure to Develop Third and Fourth Pharyngeal Pouches
- Undeveloped Thymus
- T Cell Deficiency
- Recurrent Viral and Fungal Infections
- Undeveloped Parathyroids
- Hypocalcemia
- Tetany
- Aortic Defects
- Congenital Heart Defects
- Absent Thymic Shadow on CXR
Fragile X
- Trinucleotide Repeat
- CGG Repeats
- FMR1 Gene
- X-linked Dominant
- Developmental Delay
- Autism
- Large Ears
- Large Jaw
- Long Face
- Macroorchidism
Bruton's Agammaglobulinemia
- X-linked Recessive
- Defective Bruton Tyrosine Kinase
- Blocks B Cell Maturation
- Decreased Immunoglobulins of All Classes
- Bacterial Infections After Six Months
- Maternal IgG Protects Before Six Months
Klinefelter's Syndrome
- Male (XXY)
- Eunuchoid Body Shape
- Gynecomastia and Female Hair Distribution
- Testicular Atrophy
- Dysgenesis of Seminiferous Tubules
- Possible Developmental Delay
- Hypogonadism
- Decreased Inhibin B
- Increased FSH
- Abnormal Leydig Cell Function
- Decreased Testosterone
- Increased LH
- Increased Estrogen
- Barr body (inactivated X chromosome)
Cri Du Chat
- Congenital Deletion of Short Arm of Chromosome 5p
- High Pitched Cry/Mewing
- Microcephaly
- Hypotonia
- Difficulty Sucking and Swallowing
- Epicanthal Folds
- Widely Spaced Eyes
- Wide & Flat Nasal Bridge
- High Arched Palate
- Intellectual Disability
- Cardiac Abnormalities