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
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)
MEN 1 (Multiple Endocrine Neoplasia)
- Autosomal Dominant
- Menin Mutation (Tumor Suppression Gene)
- Chromosome 11
- Pancreatic Endocrine Tumors
- Pituitary Tumors
- Parathyroid Adenomas
MEN 2A (Multiple Endocrine Neoplasia)
- Autosomal Dominant
- RET Gene
- Medullary Thyroid carcinoma
- Calcitonin
- Parathyroid
- Pheochromocytoma
MEN 2B (Multiple Endocrine Neoplasia)
- RET Gene
- Autosomal Dominant
- Medullary Thyroid Carcinoma
- Pheochromocytoma
- Mucosal Neuromas
- Marfanoid Body Habitus
Myotonic Dystrophy
- Autosomal Dominant
- Trinucleotide Repeat
- CTG
- Facial Muscle Weakness
- Frontal Balding
- Sustained Grip
- Conduction Defects
- Cataracts
- Selective Atrophy of Type 1 Fibers
- Testicular Atrophy
Neurofibromatosis Type 1
- Autosomal Dominant
- Chromosome 17
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
Neurofibromatosis Type 2
- Autosomal-Dominant
- Chromosome 22
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
Von Hippel-Lindau Disease
- Chromosome 3
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
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
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
Phenylketonuria (PKU)
- Decreased Phenylalanine Hydroxylase
- Decreased Tetrahydrobiopterin Cofactor
- Autosomal Recessive
- Tyrosine Becomes Essential
- Phenylalanine Found in Nutrasweet
- Musty or Mousy Body Odor
- Growth Retardation
- Seizures
- Intellectual Disability
- Hypopigmentation
Wilson's Disease Symptoms
- Cirrhosis
- Hepatocellular Carcinoma
- Basal Ganglia Degeneration
- Dementia
- Dyskinesia
- Asterixis
- Kayser-Fleischer Rings
- Slit Lamp Exam
- Hemolytic Anemia
Sickle Cell Anemia (Mechanism)
- Intrinsic Normocytic Hemolytic Anemia
- Point Mutation
- Autosomal Recessive
- African American
- Dehydration or Decreased O2
- Newborns Asymptomatic
- Heterozygote Malarial Resistance
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
Cystic Fibrosis Symptoms and Complications
- Recurrent Pulmonary Infections
- Chronic Bronchitis
- Nasal Polyps
- Pancreatic Insufficiency
- Intestinal Obstruction
- Malabsorption and Diarrhea
- Vitamin Deficiencies
- Chronic Hepatic Disease
- Infertility in Males
Cystic Fibrosis Diagnosis and Treatment
- Sweat Chloride Test > 60 mmol/L
- Meconium Ileus
- N-acetylcysteine
- Antibiotic Prophylaxis
- Pulmonary Maintenance
- Lung Transplant
- Vitamin Replacement