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)
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
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
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)
Turner Syndrome
- Female (XO)
- Short stature
- Shield Chest
- Cystic Hygroma (Webbing of Neck)
- Lymphedema in Hands and Feet
- Ovarian Dysgenesis
- Streak Ovary
- Decreased Estrogen
- Increased FSH
- Increased LH
- Dysgerminoma
- Bicuspid Aortic Valve
- Preductal Coarctation of the Aorta
- Horseshoe Kidney
- Menopause before Menarche
- Amenorrhea
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
Maternal Phenylketonuria
- Lack of Proper Diet During Pregnancy; Like NutraSweet
- Congenital Heart Defects
- Growth Retardation
- Intellectual Disability (Mental Retardation)
- Microcephaly
Fabry's Disease
- X-linked Recessive
- Alpha-galactosidase A Deficiency
- Increased Ceramide trihexoside
- Decreased Sweating (Hypohidrosis)
- Angiokeratoma
- Episodic Peripheral Neuropathy
- Cardiovascular Disease
- Renal Failure
Krabbe Disease
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Globoid Cells
Gauchers Disease
- Autosomal Recessive
- Beta Glucocerebrosidase Deficiency
- Lipid-laden Macrophages
- Crumpled Tissue Paper
- Osteoporosis
- Bone Crises
- Aseptic Necrosis of Femur
- Erlenmeyer Flask Deformity
- Hepatosplenomegaly
- Pancytopenia
Niemann-Pick Disease
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Foam Cells
Tay-Sachs Disease
- Autosomal Recessive
- Hexosaminidase A Deficiency
- Increased GM2 Ganglioside
- More Common in Ashkenazi Jewish Population
- Cherry Red Spot on Macula
- Neurodegeneration
- Developmental Delay
- Onion Skin Lysosomes
Metachromatic Leukodystrophy
- Autosomal Recessive
- Arylsulfatase A Deficiency
- Increased Cerebroside Sulfate
- Demyelination
- Ataxia
- Dementia
Hurler Syndrome
- Autosomal Recessive
- Mucopolysaccharidoses
- Alpha-L-Iduronidase Deficiency
- Increased Heparan Sulfate
- Increased Dermatan Sulfate
- Hepatosplenomegaly
- Developmental Delay
- Gargoylism
- Corneal Clouding
- Airway Obstruction
Hunter Syndrome
- X-linked Recessive
- Mucopolysaccharidoses
- Iduronate Sulfatase Deficiency
- Increased Dermatan Sulfate
- Increased Heparan Sulfate
- No Corneal Clouding
- Aggressive Behavior
Homocystinuria
- Autosomal Recessive
- 4 Forms
- Cystathionine Synthase Deficiency
- Decreased Affinity of Cystathionine Synthase For Vitamin B6
- Methionine Synthase Deficiency
- Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
- Marfanoid Body Habitus
- Kyphosis
- Lens Subluxation (Inferior)
- Intellectual Disability
- Atherosclerosis
- Dietary Deficiencies Can Elevate Homocysteine Levels
Fragile X
- Trinucleotide Repeat
- CGG Repeats
- FMR1 Gene
- X-linked Dominant
- Developmental Delay
- Autism
- Large Ears
- Large Jaw
- Long Face
- Macroorchidism
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
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
Li-Fraumeni Syndrome
- Autosomal Dominant
- TP53 Mutation
- Loss of Heterozygosity
- Osteosarcoma
- Breast Cancer
- Brain Tumors
- Leukemia/Lymphoma
- Adrenocortical Carcinoma
- Supportive Care
Refsum Disease
- Autosomal Recessive
- Peroxisome Dysfunction
- Increased Phytanic Acid
- Retinitis Pigmentosa
- Hearing Loss
- Polyneuropathy
- Anosmia
- Ataxia
- Genetic Testing
- Dietary Changes
- Plasmapheresis
Zellweger Syndrome
- Peroxisome Dysfunction
- Autosomal Recessive
- PEX Gene Mutation
- Hypotonia
- Seizures
- Hepatomegaly
- Polycystic Kidney Disease
- Increased Very Long-chain Fatty Acids (VLCFA)
- Supportive Care
- Poor Prognosis