Roseola is a disease of children, generally under two years old.
Bronchopulmonary dysplasia
Bronchopulmonary dysplasia (BPD; formerly chronic lung disease of infancy) is a chronic lung disorder of infants and children first described in 1967.
Testicular torsion
Testicular torsion occurs when the spermatic cord (from which the testicle is suspended) twists, cutting off the testicle's blood supply, a condition called ischemia.
Foreign body
A foreign body or sometimes known as FB (Latin: corpus alienum) is any object originating outside the body.
Salter–Harris fracture
A Salter–Harris fracture is a fracture that involves the epiphyseal plate or growth plate of a bone.
Rh disease
Rh disease (also known as rhesus isoimmunisation, Rh (D) disease, rhesus incompatibility, rhesus disease, RhD hemolytic disease of the newborn, rhesus D hemolytic disease of the newborn or RhD HDN) is a type of hemolytic disease of the newborn (HDN).
Systemic-onset juvenile idiopathic arthritis
Systemic onset juvenile idiopathic arthritis (also known as systemic juvenile idiopathic arthritis (sJIA)) is a type of juvenile idiopathic arthritis (JIA) with extra-articular manifestations like fever and rash apart from arthritis.
Rhabdomyoma
A rhabdomyoma is a benign tumor of striated muscle.
Atopic dermatitis
Atopic dermatitis (AD), also known as atopic eczema, is a type of inflammation of the skin (dermatitis).
Periventricular leukomalacia
Periventricular leukomalacia (PVL) is a form of white-matter brain injury, characterized by the necrosis (more often coagulation) of white matter near the lateral ventricles.
Rheumatic fever
Rheumatic fever (RF), also known as acute rheumatic fever (ARF), is an inflammatory disease that can involve the heart, joints, skin, and brain.
Wilms' tumor
Wilms tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children, rarely in adults.
Henoch–Schönlein purpura
Henoch–Schönlein purpura (HSP), also known as IgA vasculitis, anaphylactoid purpura, purpura rheumatica, and Schönlein–Henoch purpura, is a disease of the skin, mucous membranes, and sometimes other organs that most commonly affects children.
Coeliac disease
Coeliac disease, also spelled celiac disease, is an autoimmune disorder affecting primarily the small intestine that occurs in people who are genetically predisposed.
Abusive head trauma
Abusive head trauma (AHT), also known as shaken baby syndrome (SBS), is a constellation of medical findings (often referred to as a "triad"): subdural hematoma, retinal bleeding, and brain swelling which some physicians have used to infer child abuse caused by violent shaking.
Gastroenteritis
Gastroenteritis, also known as infectious diarrhea, is inflammation of the gastrointestinal tract that involves the stomach and small intestine.
Herpesviral encephalitis
Herpesviral encephalitis is encephalitis due to herpes simplex virus.
Sudden infant death syndrome
Sudden infant death syndrome (SIDS), also known as cot death or crib death, is the sudden unexplained death of a child less than one year of age.
Acute lymphoblastic leukemia
Acute lymphoblastic leukemia, also known as acute lymphocytic leukemia or acute lymphoid leukemia (ALL), is an acute form of leukemia, or cancer of the white blood cells, characterized by the overproduction and accumulation of cancerous, immature white blood cells, known as lymphoblasts.
Menarche
Menarche (/mᵻˈnɑːrkiː/ mə-NAR-kee; Greek: μήν mēn "month" + ἀρχή arkhē "beginning") is the first menstrual cycle, or first menstrual bleeding, in female humans.
Stillbirth
Stillbirth is typically defined as fetal death at or after 20 to 28 weeks of pregnancy.
Hirschsprung's disease
Hirschsprung's disease (HD) is a form of megacolon that occurs when part or all of the large intestine or antecedent parts of the gastrointestinal tract have no ganglion cells and therefore cannot function.
Baby colic
Baby colic, also known as infantile colic, is defined as episodes of crying for more than three hours a day, for more than three days a week, for three weeks in an otherwise healthy child.
Kawasaki disease
Kawasaki disease is a disease in which blood vessels throughout the body become inflamed.
Crigler–Najjar syndrome
Crigler–Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells.
Fragile X syndrome
Fragile X syndrome (FXS) is a genetic disorder.
Infant formula
Infant formula is a manufactured food designed and marketed for feeding to babies and infants under 12 months of age, usually prepared for bottle-feeding or cup-feeding from powder (mixed with water) or liquid (with or without additional water).
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
11β-Hydroxylase deficient congenital adrenal hyperplasia (11β-OH CAH) is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase which mediates the final step of cortisol synthesis in the adrenal.
Alagille syndrome
Alagille syndrome is an autosomal dominant genetic disorder that affects the liver, heart, kidney, and other systems of the body.
Pseudohypoaldosteronism
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism.
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).
Otitis media
Otitis media is a group of inflammatory diseases of the middle ear.
Alexander disease
Alexander disease, also known as fibrinoid leukodystrophy, is a progressive and fatal neurodegenerative disease.
Otitis externa
Otitis externa, also known as swimmer's ear, is an inflammation of the ear canal.
Rotaviral enteritis
Rotavirus enteritis is the most common cause of severe diarrhoea among infants and young children.
Reye syndrome
Reye syndrome is a rapidly progressive encephalopathy.
Croup
Croup, also known as laryngotracheobronchitis, is a type of respiratory infection that is usually caused by a virus.
Osteomalacia
Osteomalacia is the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin D, or because of resorption of calcium.
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents.
Pertussis
Pertussis (also known as whooping cough or 100-day cough) is a highly contagious bacterial disease.
Microvillous inclusion disease
Microvillus inclusion disease, also known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern.
Nephrotic syndrome
Nephrotic syndrome is a syndrome comprising signs of nephrosis, chiefly proteinuria, hypoalbuminemia, and edema.
Transient synovitis
Transient synovitis of the hip (also called toxic synovitis; see below for more synonyms) is a self-limiting condition in which there is an inflammation of the inner lining (the synovium) of the capsule of the hip joint.
Febrile seizure
A febrile seizure, also known as a fever fit or febrile convulsion, is a seizure associated with a high body temperature but without any serious underlying health issue.
Tricuspid atresia
Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve.
Apparent life-threatening events
Apparent life-threatening events (ALTE), also known as a brief resolved unexplained event (BRUE) is when a baby for less than a minute has one or more of bluish skin, poor breathing, weakness, or poor responsiveness.
Understanding Pediatric Heart Sounds
Understanding Pediatric Heart Sounds 2nd edition (2003) by Steven Lehrer is a book and audio CD that guides the student through the skills of pediatric heart auscultation.
Foreign body in alimentary tract
One of the most common locations for a foreign body is the alimentary tract.
Delayed puberty
Puberty is described as delayed puberty with exceptions when an organism has passed the usual age of onset of puberty with no physical or hormonal signs that it is beginning.
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) also called byler's disease, refers to a group of familial cholestatic conditions caused by defects in biliary epithelial transporters.
Aarskog–Scott syndrome
Aarskog–Scott syndrome is a rare disease inherited as autosomal dominant or X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies.
Fifth disease
Erythema infectiosum or fifth disease is one of several possible manifestations of infection by parvovirus B19.
Hemolytic disease of the newborn (anti-RhE)
Hemolytic disease of the newborn (anti-RhE) is caused by the anti-RhE antibody of the Rh blood group system.
Hypomagnesemia with secondary hypocalcemia
Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder affecting intestinal magnesium absorption.
Cyclic vomiting syndrome
Cyclic vomiting syndrome (US English) or cyclical vomiting syndrome (UK English) (CVS) is a chronic functional condition of unknown etiology characterised by recurring attacks of intense nausea, vomiting, and sometimes abdominal pain, headaches, or migraines.
Embrace (non-profit)
Embrace is a non profit organization providing low-cost incubators to prevent neonatal deaths in rural areas in developing countries.
Juvenile dermatomyositis
Juvenile dermatomyositis (JDM) is an idiopathic inflammatory myopathy (IMM) of presumed autoimmune dysfunction resulting in muscle weakness among other complications.
Wilson–Turner syndrome
Wilson-Turner Syndrome (WTS), also known as Mental Retardation X Linked Syndromic 6 (MRXS6), or Mental Retardation X Linked with Gynecomastia and Obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity.
Tuberculous dactylitis
Tuberculous dactylitis is a skeletal manifestation of tuberculosis.
Premature thelarche
Premature thelarche is a rare medical condition that is characterized by isolated breast development (thelarche being the onset of breast development) at a very early age with no other signs of sexual maturation.
Coxsackie A virus
Coxsackie A virus (CAV) is a cytolytic Coxsackievirus of the Picornaviridae family, an enterovirus (a group containing the polioviruses, coxsackieviruses, and echoviruses).
Shwachman–Diamond syndrome
Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature.
Neonatal infection
Neonatal infections are infections of the neonate (newborn) during the neonatal period or first four weeks after birth.
Anemia of prematurity
Anemia of prematurity refers to a form of anemia affecting preterm infants with decreased hematocrit.
McCune–Albright syndrome
McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin, and endocrine systems.
Diamond–Blackfan anemia
Diamond–Blackfan anemia (DBA), also known as Blackfan-Diamond anemia, inherited pure red cell aplasia and as inherited erythroblastopenia, is a congenital erythroid aplasia that usually presents in infancy.
2q37 deletion syndrome
2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2.
Sandifer syndrome
Sandifer syndrome (or Sandifer's syndrome) is a paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features There is a significant correlation between the syndrome and gastroesophageal reflux disease (GORD); however, it is estimated to occur in less than 1% of children with reflux.
Germinoma
A germinoma is a type of germ cell tumor, which is not differentiated upon examination.
Berdon syndrome
Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is an autosomal recessive fatal genetic disorder affecting newborns.
Hypertonia
Hypertonia is a term sometimes used synonymously with spasticity in the literature surrounding damage to the central nervous system, namely upper motor neuron lesions.
Dopamine-responsive dystonia
Dopamine-responsive dystonia (DRD), also known as hereditary progressive dystonia with diurnal fluctuation, Segawa's disease, or Segawa's dystonia, is a genetic movement disorder which usually manifests itself during early childhood at around ages 5–8 years (variable start age).
Erythema marginatum
Erythema marginatum is a type of erythema (redness of the skin or mucous membranes) involving pink rings on the torso and inner surfaces of the limbs which come and go for as long as several months.
Congenital disorder of glycosylation
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective.
Atonic seizure
Atonic seizures (also called drop seizures, akinetic seizures or drop attacks), are a type of seizure that consist of a brief lapse in muscle tone that are caused by temporary alterations in brain function.
Rho(D) immune globulin
Rho(D) immune globulin or Rh0(D) immune globulin (letter o and digit zero are both widely attested; more at Rh blood group system - Rh nomenclature) is a medicine given by intramuscular injection that is used to prevent the immunological condition known as Rh disease (or hemolytic disease of newborn).
Griscelli syndrome
Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood.
Dukes' disease
Dukes' disease, named after Clement Dukes, also known as fourth disease or Filatov-Dukes' disease (after Nil Filatov), is an exanthem.
Bronchiolitis
Bronchiolitis is inflammation of the bronchioles, the smallest air passages of the lungs.
Chronic diarrhea of infancy
Chronic diarrhea of infancy, also called toddler's diarrhea, is a common condition typically affecting children between ages 6–30 months, usually resolving by age 4.
Lucinactant
Lucinactant (trade name Surfaxin) is a liquid medication used to treat infant respiratory distress syndrome.
Cardiac fibroma
A cardiac fibroma is a rare benign tumor of the heart that occurs primarily in children.
Craniotabes
Craniotabes is softening or thinning of the skull in infants and children, which may be normally present in newborns.
Idiopathic short stature
Idiopathic short stature (ISS) refers to extreme short stature that does not have a diagnostic explanation (idiopathic designates a condition that is unexplained or not understood) after an ordinary growth evaluation.
Infantile Refsum disease
Infantile Refsum disease (IRD), also called infantile phytanic acid storage disease, is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum.
Primitive neuroectodermal tumor
Primitive neuroectodermal tumor (PNET) is a malignant (cancerous) neural crest tumor.