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    • 2

    22q11.2 Deletion Syndrome

    A

    Abdominal Wall Defects
    Abrasions
    Abscesses
    Accessory Navicular
    Achondroplasia
    ACL Knee Ligament Injury
    ACL, Torn
    Acne
    Acute Fatty Liver of Pregnancy
    Acute Leukemia
    Acute Renal Failure
    Acute Spinal Cord Injury
    Addison's Disease
    Adductus, Metatarsus
    Adenoiditis
    Adenovirus Infections
    ADHD
    Adjustment Disorders
    Adrenal Disorders
    Agranulocytosis
    AIDS
    Alagille Syndrome
    Albinism
    Allergic Rhinitis
    Allergies
    Allergies, Food
    Alopecia
    Alpha Thalassemia
    Alpha-1-Antitrypsin Deficiency
    Ambiguous Genitalia
    Amblyopia
    Amenorrhea
    Anaphylaxis
    Anemia
    Anencephaly
    Angelman Syndrome
    Animal Bites, Rabies
    Ankylosing Spondylitis, Juvenile
    Anomalous Coronary Artery (ACA)
    Anorectal Malformation
    Anorexia Nervosa
    Antenatally Detected Hydronephrosis
    Anteversion, Femoral
    Antithrombin Deficiency
    Anxiety Disorders
    Aortic Stenosis
    Apert Syndrome
    Aplastic Anemia
    Apnea of Prematurity
    Appendicitis
    Arachnoid Cyst
    Argininosuccinic Aciduria
    Arrhythmia
    Arrhythmic Right Ventricular Dysplasia
    Arthrogryposis
    Asthma
    Astigmatism
    Astrocytomas
    Ataxic
    Athetoid
    Athlete's Foot
    Atopic Dermatitis
    Atrial Septal Defect
    Atrioventricular Canal Defect
    Attention-Deficit / Hyperactivity Disorder (ADHD)
    Atypical Genitalia
    Autism
    Autism Spectrum Disorders
    Autistic Disorder
    Autosomal Dominant: Marfan Syndrome
    Autosomal Recessive Inheritance

    B

    Bacterial Endocarditis
    Bacterial Skin Infections
    Behavior Disorders
    Bell's Palsy
    Beta Thalassemia
    Biliary Atresia
    Bipolar Disorder
    Birth Defects
    Birth Injury
    Birth Injury
    Birth, Infant of Diabetic Mother
    Birth, Large for Gestational Age
    Birth, Postmaturity
    Birth, Small for Gestational Age
    Birthmarks
    Birthweight, Low
    Birthweight, Very Low
    Bites, Cat Scratch Disease
    Bites, Human
    Bites, Insect
    Bites, Snakes
    Black Eye
    Bladder Exstrophy and Epispadias
    Blepharitis
    Blisters
    Blocked Tear Duct
    Blount’s Disease
    Boils and Carbuncles
    Bone Cancers, Ewing Sarcoma
    Bone Cancers, Osteosarcoma
    Brachial Plexus Palsy
    Brain Abscess
    Brain Tumors
    Branchial Cleft Abnormalities
    Breast Abnormalities
    Breastfeeding, Flat or Inverted Nipples
    Breastfeeding, Mismanaged
    Brittle bone disease
    Bronchiolitis
    Bruises
    Bruising or Black Eye (Ecchymosis)
    Bruton's Agammaglobulinemia
    Bulimia Nervosa
    Bunions
    Burns
    Burns, Chemicals in the Eye
    Burns, First-Degree
    Burns, Heat or Thermal
    Burns, Second-Degree
    Burns, Third-Degree

    C

    Calcaneal Apophysitis
    Cancer
    Candidiasis
    Carbon Monoxide Poisoning
    Carbuncles and Boils
    Cardiomyopathy
    Cardiomyopathy, Dilated
    Cardiomyopathy, Hypertrophic
    Cardiomyopathy, Restrictive
    Carpal Coalition
    Cat Scratch Disease
    Cataracts
    Cavus Foot
    Celiac Disease
    Cellulitis
    Cellulitis of the Eye
    Central Alveolar Hypoventilation
    Central Apnea
    Central Deficiency
    Cerebral Palsy
    Chalazion
    Chemical Burns
    Chemical Burns of the Eye
    Chemical, Burns
    Chiari Malformation
    Chickenpox
    Choledochal Cysts
    Cholestasis of Pregnancy
    Chondrodysplasia Punctata
    Chorioamnionitis
    Chronic Cough
    Chronic Lung Disease (CLD)
    Chronic Myelogenous Leukemia (CML)
    Chronic Renal Failure
    Chronic Respiratory Failure
    Cleft Hand
    Cleft Lip and Palate
    Cloacal and Urogenital Sinus Anomalies
    Clubfoot
    Cluster Headaches
    Cold Sores
    Colds
    Colic
    Common Cold
    Common Variable Immunodeficiency (CVID)
    Communication Disorders
    Conduct Disorder
    Congenital Diaphragmatic Hernia (CDH)
    Congenital Heart Defects
    Congenital Heart Disease
    Congenital Laryngeal Stridor
    Congenital Muscular Torticollis
    Congenital Spine and Rib Abnormalities
    Conjunctivitis
    Constipation
    Constricted Ear
    Contact Dermatitis
    Contractures of the Hip/Knees
    Cooley's Anemia
    Corneal Abrasions
    Coronal Synostosis
    Cradle Cap
    Craniosynostosis
    Cri du Chat
    Crohn's Disease
    Crossed Eyes
    Croup
    Crouzon Syndrome
    Cryptorchidism
    Cryptosporidium
    Cryptotia
    Cushing's Syndrome
    Cuts and Scrapes
    Cystic Fibrosis
    Cytomegalovirus (CMV)

    D

    Dacryostenosis
    Deformational Plagiocephaly
    Delayed Puberty
    Depression
    Dermatitis
    Dermatomyositis
    Dermatomyositis, Juvenile
    Dermoid Cyst
    Developmental Dysplasia of the Hip (DDH)
    Deviated Septum
    Diabetes
    Diabetes and Pregnancy
    Diabetes Insipidus
    Diabetes, Type 1
    Diabetes, Type 2
    Diamond Blackfan Anemia
    Diaper Dermatitis
    Diaper Rash
    Diaphragmatic Hernia
    Diarrhea
    Diastrophic Dysplasia
    Diffluent Speech
    Dilated Cardiomyopathy
    Diphtheria, Tetanus, and Pertussis (DTaP)
    Dislocations
    Disproportionate Short Stature
    DNET
    Down Syndrome (Trisomy 21)
    Drug Rashes
    DTaP
    Dumbo ears
    Dysembryoplastic Neuroepithelial Tumor (DNET)
    Dyskinetic
    Dysmenorrhea
    Dysphagia
    Dysrhythmia
    Dysthymia

    E

    E. coli
    Eagle-Barrett Syndrome
    Early Puberty
    Eating Disorders
    Ectopic Pregnancy
    Eczema
    Edwards Syndrome
    Eisenmenger Syndrome
    Elbow, Nursemaid's
    Electrical Burns
    Elf ear
    Embryonal Sarcoma
    Encephalitis
    Encephaloceles
    Encephalotrigeminal Angiomatosis
    Enchondromatosis
    Encopresis
    Endometriosis
    Enuresis
    Ependymoma
    Epiglottitis
    Epilepsy
    Epilepsy and Pregnancy
    Erythroblastosis Fetalis
    Esophageal Atresia
    Ewing Sarcoma
    Exstrophy of the Bladder and Epispadias
    Eyelid Laceration

    F

    Facial Paralysis
    Factor V Leiden
    Failure to Thrive
    Fainting
    Familial Mediterranean Fever
    Fanconi's Anemia
    Farsightedness
    Femoral Anteversion
    Fetal Alcohol Syndrome
    Fevers
    Fibromyalgia
    Fibrositis
    Fifth Disease
    First-Degree Burns
    Flatfoot
    Flu
    Fluid and Electrolyte Disorders
    Folliculitis
    Food Allergies
    Foreign Bodies in the Ear, Nose, and Airway
    Fractures
    Fractures of the Foot
    Fragile X Syndrome
    Frieberg’s
    Frostbite

    G

    Ganglioglioma
    Gastroesophageal Reflux (GER)
    Gastroschisis
    Gastrostomy Site Breakdown
    Gaucher Disease
    Generalized Anxiety Disorder
    Genital Herpes
    Genitalia, Atypical
    Germ Cell Tumors
    German Measles
    Gestational Hypertension
    Giardia
    Glaucoma
    Glial Cell Tumors
    Glomerulonephritis
    Gonadotropin-Independent Precocious Puberty
    Graves' Disease
    Group B Streptococcus
    Growth Hormone Deficiency
    Growth Problems
    Guillain-Barré Syndrome

    H

    H1N1 (Swine Flu)
    Haemophilus Influenzae
    Hallux Valgus
    Hand-Foot-Mouth Disease
    Head Injury
    Head Lice
    Headaches
    Hearing Loss
    Hearing Loss in Babies
    Heart Defects
    Heart Disease
    Heart Failure
    Heart Murmurs
    Heartburn
    Heat or Thermal Burns
    HELLP Syndrome
    Hemangiomas
    Hemifacial Microsomia
    Hemolytic Anemia
    Hemolytic Disease of the Newborn
    Hemolytic Uremic Syndrome (HUS)
    Hemophagocytic Lymphohistiocytosis (HLH)
    Hemophilia
    Hemorrhagic Disease
    Henoch-Schonlein Purpura
    Hepatitis
    Hepatitis B (HBV)
    Hepatoblastoma
    Hepatocellular Carcinoma
    Hereditary Hemorrhagic Telangiectasia (HHT)
    Hernia
    Herpangina
    Herpes
    Herpes Simplex Virus
    Herpes Zoster (Shingles)
    High Blood Pressure
    High Bone Density
    Hirschsprung Disease
    Hirsutism
    HIV
    Hives
    HLH
    Hodgkin Lymphoma
    Hordeolum
    Horseshoe Kidney
    HPV
    Human Bites
    Human Papilloma Virus
    Hurler Syndrome
    Hyaline Membrane Disease/Respiratory Distress Syndrome
    Hydroceles
    Hydrocephalus
    Hydrops Fetalis
    Hyper Immunoglobulinemia D Syndrome (HIDS)
    Hyperbilirubinemia
    Hyperemesis Gravidarum
    Hyperinsulinemia
    Hyperopia
    Hyperparathyroidism
    Hypertension
    Hyperthyroidism
    Hypertrophic Cardiomyopathy
    Hyphema (Blood in the Eye)
    Hypocalcemia
    Hypoglycemia
    Hypoglycemia in the Newborn
    Hypoparathyroidism
    Hypopituitarism
    Hypoplastic Left Heart Syndrome
    Hypoplastic Thumb
    Hypospadias
    Hypothyroidism

    I

    Immune Thrombocytopenic Purpura (ITP)
    Immunodeficiencies
    Imperforate Anus
    Impetigo
    Incomplete Bladder Emptying
    Incontinentia Pigmenti
    Ineffective Latch-on
    Infant of Diabetic Mother
    Infantile Refsum's Disease
    Influenza
    Inguinal Hernia
    Insect Stings and Allergic Reactions
    Intestinal Atresia
    Intestinal Duplication
    Intestinal Malrotation
    Intestinal Obstruction
    Intrauterine Growth Restriction (IUGR)
    Intraventricular Hemorrhage
    Intussusception
    Iron Deficiency Anemia
    Irritable Bowel Syndrome

    J

    Jaundice
    Jeune Syndrome
    JPA
    Jumper's Knee
    Juvenile Ankylosing Spondylitis
    Juvenile Dermatomyositis
    Juvenile Dermatomyositis
    Juvenile Osteomyelitis
    Juvenile Osteoporosis
    Juvenile Pilocytic Astrocytoma
    Juvenile Rheumatoid Arthritis

    K

    Kawasaki Disease
    Keloids
    Keratitis
    Kidney, Horseshoe
    Kohler Disease
    Kyphosis

    L

    Lactose Intolerance
    Lambdoid Craniosynostosis
    Lambdoid synostosis
    Large for Gestational Age
    Late Effects
    Lazy eye
    Lead Poisoning
    Learning Disorders
    Leber's Optic Atrophy
    Legg-Calvé-Perthes Disease
    Leukemia
    Lice
    Limb Defects
    Limb Deficiencies
    Lipomyelomeningocele
    Listeriosis
    Little Leaguers' Elbow or Shoulder
    Liver Cancer
    Liver Disease
    Liver Failure
    Lordosis
    Low Birthweight
    Low Bone Density
    Low Milk Production
    Lumbar Lordosis
    Lung Disease
    Lupus
    Lyme Disease
    Lymphadenitis
    Lymphadenopathy
    Lymphangiomas
    Lymphatic Malformations

    M

    Macrodactyly
    Major Depression
    Malignant Brain Tumors
    Malocclusion
    Malrotation
    Manic Depression
    Marateaux-Lamy Syndrome
    Marfan Syndrome
    Mastoiditis
    Measles
    Meckel's Diverticulum
    Meconium Aspiration
    Medulloblastoma
    Megaloblastic (Pernicious) Anemia
    Megaureter
    Melasma
    Meningitis
    Meningocele
    Meningococcal Infections
    Menstrual Conditions
    Metatarsus Adductus
    Methicillin-Resistant Staphylococcus Aureus (MRSA)
    Metopic synostosis
    Microcephaly
    Micropenis
    Microtia
    Middle Ear Infection
    Midfacial Hypoplasia
    Migraine Headache
    Miscarriage
    Mismanaged Breastfeeding
    Mobius Syndrome
    Moebius syndrome
    Molluscum Contagiosum
    Mononucleosis
    Mood Disorders
    Morning Sickness
    Mosaic Down Syndrome
    Mosaicism
    Mucopolysaccharidosis Type VI
    Mucositis
    Multiple Epiphyseal Dysplasia
    Multiple Hereditary Osteochondromatosis
    Mumps
    Muscular Dystrophy
    Mushroom Poisoning
    Myasthenia Gravis
    Myelodysplasia
    Myelomeningocele
    Myopia

    N

    Narcolepsy
    Nearsightedness
    Neck Abscess
    Necrotizing Enterocolitis
    Neonatal Abstinence Syndrome
    Nephroblastoma
    Nephrotic Syndrome
    Neuroblastoma
    Neurofibromatosis
    Neurogenic Bladder
    Neurogenic Bowel
    Neutropenia
    Nightmares and Night Terrors
    Nocturnal Enuresis
    Non-Hodgkin's Lymphoma
    Nosebleeds
    Nursemaid's Elbow
    Nystagmus

    O

    Obesity
    Obsessive-Compulsive Disorder (OCD)
    Obstructive Apnea Syndrome
    Obstructive Lung Diseases
    Obstructive Uropathy
    Omphalocele
    Oppositional Defiant Disorder
    Orbital Cellulitis
    Orbital Fracture
    Ornithine Transcarbamylase Deficiency
    Osgood-Schlatter Disease
    Osler-Weber-Rendu Disease
    Osteochondritis Dissecans
    Osteochondrodysplasias
    Osteogenesis Imperfecta
    Osteomyelitis
    Osteopetrosis
    Osteoporosis
    Osteosarcoma
    OTC Deficiency
    Otitis Externa
    Otitis Media
    Ovarian Cysts
    Over-Active Let-Down
    Overactive Adrenal Glands
    Oxalosis

    P

    Pallister Killian
    Patau Syndrome
    Patellar Tendonitis
    Patent Ductus Arteriosus
    Pectus Carinatum
    Pectus Excavatum
    Pericarditis
    Peripheral Nerve Injuries
    Periventricular Leukomalacia (PVL)
    Pernicious Anemia
    Persistent Pulmonary Hypertension
    Pertussis
    Pervasive Developmental Disorders
    Pfeiffer Syndrome
    Pharyngitis
    Pheochromocytoma
    Phimosis and Paraphimosis
    Phobias
    Phocomelia
    Pierre Robin Syndrome
    Pigeon Chest
    Pigeon Toed
    Pigmented Nevi
    Pilomatrixoma
    Pilonidal Cysts
    Pink Eye
    Pityriasis Rosea
    Plethora
    Plugged Milk Ducts
    Pneumonia
    Pneumothorax
    Pocket ear
    Poison Ivy / Poison Oak
    Poland Syndrome
    Polio
    Poliomyelitis
    Polycystic Kidney Disease (PKD)
    Polycystic Ovarian Syndrome (PCOS)
    Polycythemia
    Polydactyly
    Portal Hypertension
    Positional Plagiocephaly
    Post-Term Pregnancy
    Post-Traumatic Stress Disorder
    Posterior Plagiocephaly
    Posterior Urethral Valves (PUV)
    Postmaturity
    Postpartum Hemorrhage
    Postpartum Thyroiditis
    Prader-Willi Syndrome
    Pre-Septal Cellulitis
    Precocious Puberty (Early Puberty)
    Premature Rupture of Membranes
    Prematurity
    Premenstrual Syndrome (PMS)
    Pressure Sores
    Preterm Labor
    Primary Familial Intrahepatic Cholestasis (PFIC)
    Primitive Neuroectodermal Tumors (PNET)
    Prominent Ears
    Proportionate Short Stature
    Protein C Deficiency
    Protein S Deficiency
    Prothrombin Thrombophilia
    Prune Belly Syndrome
    Psoriatic Arthritis
    PTSD
    Pulmonary Atresia
    Pulmonary Stenosis
    Puncture Wounds
    Pyloric Stenosis

    R

    Rabies
    Radial Longitudinal Deficiency
    Radiohumeral Synostosis
    Radioulnars Synostosis
    Reciprocal ranslocation
    Renal Failure
    Respiratory Distress Syndrome/Hyaline Membrane Disease
    Respiratory Syncytial Virus (RSV)
    Restrictive Cardiomyopathy
    Retinoblastoma
    Retinopathy of Prematurity
    Reye Syndrome
    Rh Disease
    Rhabdomyosarcoma
    Rheumatic Fever
    Rheumatic Heart Disease
    Rhinovirus
    Rhythmic Movement Disorders
    Ringworm
    Robertsonian Translocation
    Rocky Mountain Spotted Fever (RMSF)
    Roseola
    Rotavirus
    Roundworm Infections
    Rubella (German Measles)
    Rubeola (Measles)
    Rumination Syndrome

    S

    Saethre-Chotzen Syndrome
    Sagittal synostosis
    Salmonella
    Sarcoidosis
    Scabies
    Scaphocephaly
    Scarlatina
    Scarlet Fever
    School Refusal
    Schwachman Diamond
    Scleroderma
    Sclerosing Cholangitis
    Scoliosis
    Scrapes and Cuts
    Scrotal Swelling
    Seborrheic Dermatitis
    Second-Degree Burns
    Seizures
    Separation Anxiety Disorder
    Separation Anxiety Disorder
    Sepsis
    Septal Defect, Atrial
    Septic Arthritis
    Severe Acute Respiratory Syndrome (SARS)
    Severe Combined Immunodeficiency (SCID)
    Sever’s Disease
    Sexually Transmitted Diseases
    Shin Splints
    Shingles, Herpes Zoster
    Sickle Cell Anemia
    Sickle Cell Disease
    Sinding-Larsen-Johansson Disease
    Sinusitis
    Sjogren's Syndrome
    Skewfoot
    Skin Cancer
    Skin Color Changes in Newborns
    Skin Infections, Bacterial
    Skin Lesions
    Sleep Apnea
    Slipped Capital Femoral Epiphysis
    Slow or Poor Infant Weight Gain
    Small for Gestational Age
    Snake Bites
    Sore Nipples
    Spastic Diplegia
    Spastic Double Hemiplegia
    Spastic Hemiplegia
    Spastic Quadriplegia
    Spina Bifida
    Spina Bifida Occulta
    Spinal Infections
    Spinal Muscular Atrophy
    Spinal Tumor
    Splinters
    Spondyloarthropathy
    Spondylolithesis
    Spondylolysis
    Sprains and Strains
    Stahl’s Ear
    Stammering
    Staphylococcal Scalded Skin Syndrome
    Stenosis, Aortic
    Stillbirth
    Stings, Insect
    Strabismus
    Stridor
    Stroke
    Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
    Sturge-Weber Disease
    Stuttering
    Stye
    Styes
    Substance Abuse
    Sudden Infant Death Syndrome (SIDS)
    Suicidal Behavior
    Sunburn
    Sunken Chest
    Swimmer's Ear
    Swine Flu (H1N1)
    Syncope
    Syndactyly
    Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH)
    Syringomyelia
    Systemic Lupus Erythematosus (SLE)
    Systemic Lupus Erythematosus (SLE)
    Systemic Sclerosis

    T

    TAPVR
    Tarsal Coalition
    Tay-Sachs Disease
    Teen Suicide
    Teething
    Temper Tantrums
    Tennis Elbow
    Tension Headaches
    Testicular Torsion
    Tetanus
    Tethered Cord
    Tethered Spinal Cord Syndrome
    Tetralogy of Fallot
    Thalassemia
    Thermal Burns
    Third-Degree Burns
    Thrombocytopenia
    Thrush
    Thumb Hypoplasia
    Thyroglossal Duct Cyst
    Tibial Torsion
    Tinea Infections
    Tinea Versicolor
    Toe Walking
    Tonsillitis
    Torn ACL
    Total Anomalous Pulmonary Venous Return
    Tourette's Disorder
    Toxic Epidermal Necrolysis
    Toxic Shock Syndrome
    Toxoplasmosis
    Tracheoesophageal Fistula
    Transient Tachypnea
    Translocation Down Syndrome
    Translocations
    Transposition of the Great Arteries (TGA)
    Treacher Collins Syndrome
    Trichomoniasis
    Tricuspid Atresia (TA)
    Trigonocephaly
    Trisomy 18 and 13
    Truncus Arteriosus
    Tuberculosis
    Tuberous Sclerosis
    Tuberous Sclerosis Complex (TSC)
    Turner Syndrome
    Type 1 Diabetes
    Type 2 Diabetes
    Tyrosinemia

    U

    Ulcerative Colitis
    Ulcers
    Ulnar Longitudinal Deficiency
    Umbilical Hernia
    Underactive Adrenal Glands
    Undescended Testes
    Upper Respiratory Infection
    Ureterocele and Ureteral Duplication
    Urinary Frequency
    Urinary Incontinence
    Urinary Tract Infection
    Uticaria

    V

    Vaginitis
    Varicella
    Vascular Birthmarks
    Vascular Malformations
    Vasculitis
    Ventricular Septal Defect (VSD)
    Vertical Talus
    Very Low Birthweight
    Vesicoureteral Reflux
    Vitamin K Deficiency Bleeding
    Vitiligo
    Vocal Cord Dysfunction
    Voiding Dysfunction
    Von Willebrand's Disease
    Vulvitis

    W

    Warts
    Weight Management
    West Nile Virus
    Whooping Cough
    Williams Syndrome
    Wilms Tumor
    Wilson's Disease
    Wolff-Parkinson-White Syndrome (WPW)

    X

    X-linked Agammaglobulinemia

    Y

    Yeast Infection
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