HealthCentralcm.own.healthcentralgeneralhealth77nonenone2001Healthcentral.com is one of the most trusted sources of medical information and up to date news and contains a doctor-approved health encyclopedia of diseases and conditions, the ability to find symptoms and treatments. Also drug information with side effects and interactions./home/sites/healthcentralwww.healthcentral.com/HealthCentral : Genetic/CongenitalGenetic/Congenital - Diseases and Conditions, Treatments, General Health InformationGenetic/Congenital - Diseases and Conditions, Treatments, General Health InformationGenetic/CongenitalbirthdefectsbirthdefectsinfanthealthHealthCentralDiseasesGenetic/Congenitalhttp://www.healthcentral.com/channel/408/1174.htmlhttp://www.healthcentral.com/channel/408/1174_pf.htmlChannel Page179585Genetic/Congenital1174.htmlGenetic/CongenitalADAM Encyclopedia (more_index_1_8_7)In vitro fertilization (IVF)2007-03-27 13:52:39.0ADAM2009-11-05 07:33:02.0In vitro fertilization (IVF)In vitro fertilization (IVF)In vitro fertilization (IVF)In vitro fertilization (IVF)Sperm19471 419471 5The male reproductive system creates sperm that is manufactured in
the seminiferous tubules within each testicle. The head of the
sperm contains the DNA, which when combined with the egg's DNA,
will create a new individual. The tip of the sperm head is the
portion called the acrosome, which enables the sperm to penetrate
the egg. The midpiece contains the mitochondria which supplies the
energy the tail needs to move. The tail moves with whip-like
movements back and forth to propel the sperm towards the egg. The
sperm have to reach the uterus and the fallopian tube in order to
fertilize a woman's egg.Uterus19263 419263 5The uterus is a hollow muscular organ located in the female pelvis
between the bladder and rectum. The ovaries produce the eggs that
travel through the fallopian tubes. Once the egg has left the ovary
it can be fertilized and implant itself in the lining of the
uterus. The main function of the uterus is to nourish the
developing fetus prior to birth.Intracytoplasmic sperm injection200061 4InfertilityInfertility - resourcesTransvaginal ultrasoundVaginaPelvic laparoscopyCervixPelvic inflammatory disease (PID)EndometriosisMiscarriageHCG blood test - quantitativeAvian influenzaThough rare, avian influenza symptoms in humans have ranged from fever, cough and sore throat to pneumonia and other life-threatening complications.2006-11-04 00:54:53.0ADAM2009-11-05 08:13:32.0bird flu bird flu Avian influenzaAvian influenzaAvian influenzaAvian influenzaThe fluImmune responseNewborn screening tests2006-11-04 00:54:45.0ADAM2010-05-07 17:51:42.0Newborn screening testsNewborn screening testsNewborn screening testsNewborn screening testsCystic fibrosisSickle cell anemiaMaple syrup urine diseaseAPGARNeonatal hypothyroidismGalactosemiaPhenylketonuriaCongenital adrenal hyperplasiaNeonatal cystic fibrosis screeningGlucose-6-phosphate dehydrogenase deficiencyMethylmalonic acidemiaHearing loss - infantsNICU consultants and support staff2006-11-04 00:54:35.0ADAM2010-05-10 10:44:37.0NICU consultants and support staffNICU consultants and support staffAudiologyElectrocardiogramEchocardiogramCardiac catheterizationBiopsyIntravenousHepatitisCholestasisUltrasoundCancerCBCMeningitisCerebral spinal fluid (CSF) collectionDiabetesSeizuresEEGCT scanMRISkull fractureBroken boneNecrotizing enterocolitisBarium enemaUnilateral hydronephrosisHypospadiasX-rayDevelopmental milestonesPremature infantHydrocephalusRetinopathy of prematurityNeonatal respiratory distress syndromeBronchopulmonary dysplasiaExtra-corporeal membrane oxygenation2006-11-04 00:54:28.0ADAM2009-11-05 07:46:38.0Extra-corporeal membrane oxygenationExtra-corporeal membrane oxygenationECMO21725 421725 5ECMO stands for Extra Corporeal Membrane Oxygenation. ECMO is used
in infants who are extremely ill due to breathing or heart
problems. The ECMO machine circulates blood through an artificial
lung back into the bloodstream. This provides adequate oxygen to
the baby while allowing time for the lungs and heart to "rest" or
heal.Meconium aspiration syndromePneumoniaHypertensionPregnancy carePregnancy care2006-11-04 00:54:08.0ADAM2009-11-05 08:16:57.0Pregnancy carePregnancy careBack pain - lowJoint painNausea and vomitingHeartburnHeadacheFrequent or urgent urinationMuscle crampsConstipationDiabetesRubellaProtein - urineAbortion - surgicalFeverVaginal bleeding between periodsVentricular fibrillationVentricular fibrillation2006-11-04 00:53:49.0ADAM2009-11-05 08:36:04.0Ventricular fibrillationVentricular fibrillationVentricular fibrillationVentricular fibrillationHeart, front view1097 41097 5The external structures of the heart include the ventricles, atria,
arteries and veins. Arteries carry blood away from the heart while
veins carry blood into the heart. The vessels colored blue indicate
the transport of blood with relatively low content of oxygen and
high content of carbon dioxide. The vessels colored red indicate
the transport of blood with relatively high content of oxygen and
low content of carbon dioxide.Heart, section through the middle1056 41056 5The interior of the heart is composed of valves, chambers, and
associated vessels.ArrhythmiasCongenital heart diseaseHeart attackCardiomyopathyIschemic cardiomyopathyProstate cancer - genetic and other markersProstate cancer - genetic and other markers2006-11-04 00:53:35.0ADAM2007-10-20 15:35:11.0Prostate cancer - genetic and other markersProstate cancer - genetic and other markersPSA blood test18039 418039 5Prostate-specific antigen (PSA) is a glycoprotein in the cytoplasm
of prostatic epithelial cells. It can be detected in the blood of
all adult men. The PSA level is increased in men with prostate
cancer but can also be increased somewhat in other disorders of the
prostate.Prostate cancer18038 418038 5Treatment of prostate cancer varies depending on the stage of the
cancer (i.e., spread) and may include surgical removal, radiation,
chemotherapy, hormonal manipulation or a combination of these
treatments.Male reproductive anatomy1113 41113 5The male reproductive structures include the penis, the scrotum,
the seminal vesicles and the prostate.Stem cell researchStem cell research2006-11-04 00:53:19.0ADAM2009-11-05 08:28:15.0Stem cell researchStem cell researchIn vitro fertilization (IVF)Alzheimer’s diseaseParkinson’s diseaseTay-Sachs - resourcesTay-Sachs - resources2006-11-04 00:52:06.0ADAM2009-11-05 07:58:49.0Tay-Sachs - resourcesTay-Sachs - resourcesCentral nervous system8679 48679 5The central nervous system is comprised of the brain and spinal
cord. The peripheral nervous system includes all peripheral nerves.Tay-Sachs diseaseKaryotypingKaryotyping2006-11-04 00:52:05.0ADAM2009-11-05 08:19:38.0KaryotypingKaryotypingKaryotypingKaryotypingKaryotyping9488 49488 5Karyotyping is a test used to identify chromosome abnormalities as
the cause of malformation or disease. The test can be performed on
a sample of blood, bone marrow, amniotic fluid, or placental
tissue.MiscarriageInfant test/procedure preparationToddler test or procedure preparationPreschooler test or procedure preparationSchool age test or procedure preparationAdolescent test or procedure preparationAmniocentesisBone marrow biopsyVenipunctureChronic myelogenous leukemia (CML)Muscle biopsyMuscle biopsy2006-11-04 00:51:50.0ADAM2009-11-05 08:35:30.0Muscle biopsyMuscle biopsyMuscle biopsyMuscle biopsyMuscle biopsy8868 48868 5A muscle biopsy involves removal of a plug of tissue usually by a
needle to be later used for examination. Sometimes more than one
needle insertion may be needed to obtain a large enough specimen.
If there is a patchy condition expected an open biopsy may be used.
Open biopsy involves a small incision through the skin and into the
muscle, so that a sample of muscle tissue can be removed from the
affected area. There may be some slight bruising or bleeding at the
site but the risks are minimal with the procedure.BiopsyChronicPolyarteritis nodosaTrichinosisToxoplasmosisMuscular dystrophyElectromyographyLeft heart catheterizationLeft heart catheterization2006-11-04 00:50:24.0ADAM2009-11-05 07:56:03.0Left heart catheterizationLeft heart catheterizationLeft heart catheterizationLeft heart catheterizationCardiac catheterization1080 41080 5Cardiac catheterization is used to study the various functions of
the heart. Using different techniques, the coronary arteries can be
viewed by injecting dye or opened using balloon angioplasty. The
oxygen concentration can be measured across the valves and walls
(septa) of the heart and pressures within each chamber of the heart
and across the valves can be measured. The technique can even be
performed in small, newborn infants.Left heart catheterization18143 418143 5Left heart catheterization involves the passage of a catheter (a
thin flexible tube) into the left side of the heart to obtain
diagnostic information about the left side of the heart or to
provide therapeutic interventions in certain types of heart
conditions. The test can determine pressure and blood flow in the
heart's chambers, collect blood samples from the heart, and examine
the arteries of the heart by X-ray (fluoroscopy).X-rayIntravenousSwan-Ganz - right heart catheterizationSwan-Ganz - right heart catheterization2006-11-04 00:50:22.0ADAM2009-11-05 08:25:45.0Swan-Ganz - right heart catheterizationSwan-Ganz - right heart catheterizationSwan-Ganz - right heart catheterizationSwan-Ganz - right heart catheterizationCardiac catheterization1080 41080 5Cardiac catheterization is used to study the various functions of
the heart. Using different techniques, the coronary arteries can be
viewed by injecting dye or opened using balloon angioplasty. The
oxygen concentration can be measured across the valves and walls
(septa) of the heart and pressures within each chamber of the heart
and across the valves can be measured. The technique can even be
performed in small, newborn infants.Swan Ganz catheterization18087 418087 5Right heart catheterization involves the passage of a catheter (a
thin flexible tube) into the right side of the heart to obtain
diagnostic information about the heart and for continuous
monitoring of heart function in critically ill patients.ElectrocardiogramBurnsCongenital heart diseaseHeart failureKidney diseaseShockHeart attackPulmonary hypertensionCardiac tamponadeRestrictive cardiomyopathy17-OH progesterone17-OH progesterone2006-11-04 00:46:19.0ADAM2009-11-05 08:11:45.017-OH progesterone17-OH progesterone17-OH progesterone17-OH progesteroneAdrenal glandsCongenital adrenal hyperplasiaHam testHam’s (acid hemolysin) test2006-11-04 00:45:27.0ADAM2009-11-05 07:54:20.0Ham testHam testHam testHam testParoxysmal nocturnal hemoglobinuria (PNH)AnemiaPorphyrins - urinePorphyrins - urine2006-11-04 00:44:09.0ADAM2009-11-05 08:33:50.0Porphyrins - urinePorphyrins - urinePorphyrins - urinePorphyrins - urineFemale urinary tract1122 41122 5The female and male urinary tracts are relatively the same except
for the length of the urethra.Porphyrin urine test9770 49770 5The uroporphyrin test measures levels of porphyrins in urine. The
most important function of porphyrins is as components of heme,
which is made from iron plus protoporphyrin. Hemoglobin is made up
of four globin proteins plus 4 heme groups. Oxygen binds to the
iron in the heme molecules. Each step requires the presence of an
enzyme. If any of the enzymes are deficient because of a genetic
disease or inhibition by a toxic substance, a type of porphyria
results.Male urinary tract1123 41123 5The male and female urinary tracts are relatively the same except
for the length of the urethra.HemoglobinDelta-ALAPBG testEnzymePorphyria24-hour urine copper test24-hour urine Cu2006-11-04 00:43:50.0ADAM2009-11-05 07:30:36.024-hour urine copper test24-hour urine copper test24-hour urine copper test24-hour urine copper testCopper urine test9222 49222 5The copper urine test is performed by collecting urine at specific
times for a 24-hour period. The urine is tested for the amount of
copper present. The copper urine test is used to determine the
presence of Wilson disease, a sometimes fatal condition in which
the buildup of excess copper damages the liver, and eventually the
kidneys, eyes and brain.Wilson's diseasePBG testPBG2006-11-04 00:43:37.0ADAM2009-11-05 08:10:59.0PBG testPBG testPBG testPBG testMale urinary system10022 410022 5The urinary system is made up of the kidneys, ureters, urethra and
bladder.Delta-ALAPorphyrins - urineHemoglobinPorphyriaMethylmalonic acid testMethylmalonic acid2006-11-04 00:42:45.0ADAM2009-11-05 07:29:15.0Methylmalonic acid testMethylmalonic acid testMethylmalonic acid testMethylmalonic acid testBlood test10026 410026 5Blood is drawn from a vein (venipuncture), usually from the inside
of the elbow or the back of the hand. A needle is inserted into the
vein, and the blood is collected in an air-tight vial or a syringe.
Preparation may vary depending on the specific test.Methylmalonic acidemiaNewborn screening testsAnemia - B12 deficiencyHLA-B27 antigenHLA-B27 antigen2006-11-04 00:42:18.0ADAM2009-11-05 08:19:49.0HLA-B27 antigenHLA-B27 antigenHLA-B27 antigenHLA-B27 antigenBlood test10026 410026 5Blood is drawn from a vein (venipuncture), usually from the inside
of the elbow or the back of the hand. A needle is inserted into the
vein, and the blood is collected in an air-tight vial or a syringe.
Preparation may vary depending on the specific test.Autoimmune disordersAnkylosing spondylitisReactive arthritisESRC-reactive proteinRheumatoid factor (RF)Histocompatibility antigen testKidney transplantBone marrow transplantHistocompatibility antigen testHistocompatibility antigens2006-11-04 00:42:16.0ADAM2009-11-05 07:48:43.0Histocompatibility antigen testHistocompatibility antigen testHistocompatibility antigen testHistocompatibility antigen testBlood test10026 410026 5Blood is drawn from a vein (venipuncture), usually from the inside
of the elbow or the back of the hand. A needle is inserted into the
vein, and the blood is collected in an air-tight vial or a syringe.
Preparation may vary depending on the specific test.Bone Tissue1679 41679 5A photomicrograph of bone tissue. Bone tissue is obtained from a
bone biopsy and examined under a microscope. This is a picture of
how normal tissue appears when magnified.Kidney transplantBone marrow transplantAutoimmune disordersHLA-B27 antigenAnkylosing spondylitisReactive arthritisImmunofixation - serumImmunofixation - serum2006-11-04 00:42:04.0ADAM2009-11-05 08:35:55.0Immunofixation - serumImmunofixation - serumImmunofixation - serumImmunofixation - serumBlood test10026 410026 5Blood is drawn from a vein (venipuncture), usually from the inside
of the elbow or the back of the hand. A needle is inserted into the
vein, and the blood is collected in an air-tight vial or a syringe.
Preparation may vary depending on the specific test.Protein electrophoresis - serumMultiple myelomaMacroglobulinemia of WaldenstromSerum globulin electrophoresisGlucose-6-phosphate dehydrogenaseAlpha-1 antitrypsinToxoplasma testToxoplasma test2006-11-04 00:41:16.0ADAM2009-11-05 08:31:24.0Toxoplasma testToxoplasma testToxoplasma testToxoplasma testBlood test10026 410026 5Blood is drawn from a vein (venipuncture), usually from the inside
of the elbow or the back of the hand. A needle is inserted into the
vein, and the blood is collected in an air-tight vial or a syringe.
Preparation may vary depending on the specific test.AntibodyToxoplasmosisBuccal smearBuccal smear2006-11-04 00:39:02.0ADAM2009-11-05 08:18:04.0Buccal smearBuccal smearBuccal smearBuccal smearBuccal smear9140 49140 5A buccal smear is a test where cells are taken from the tongue.
Cells are collected by scraping the tongue with a spatula. The
cells are then placed on a slide and the sample is taken to the
laboratory for evaluation. The cells are evaluated for the presence
of Barr bodies (a mass seen in a normal female sex chromosome). The
buccal smear test can confirm whether the patient is a male or
female.Throat anatomy1118 41118 5Structures of the throat include the esophagus, trachea, epiglottis
and tonsils.Methylene blue testMethylene blue test2006-11-04 00:39:01.0ADAM2009-11-05 08:11:11.0Methylene blue testMethylene blue testMethylene blue testMethylene blue testMethemoglobinemiaBlood pressureHemoglobin derivativesHemoglobinCytochrome b5 reductaseChorionic villus samplingChorionic villus sampling2006-11-04 00:38:55.0ADAM2009-11-05 07:57:51.0Chorionic villus samplingChorionic villus samplingChorionic villus samplingChorionic villus samplingChorionic villus sampling - series2007-03-27 13:09:42.0ADAM2009-11-05 07:57:51.0Chorionic villus sampling9181 49181 5The chorion is the portion of fetal membrane that eventually forms
the fetal side of the placenta. The chorion contains chorionic
villi, which are small finger-like projections. These villi are
snipped or suctioned off for study in the procedure. Since the
chorionic villi are of fetal origin, examining samples of them can
provide the genetic makeup of the fetus. This test is performed to
identify congenital defects. Experts use the sample to study the
DNA, chromosomes, and enzymes of the fetus. The test can be done
before amniocentesis, about 10 to 12 weeks after a missed period.UltrasoundAmniocentesisAbortion - elective or therapeuticAbdominal ultrasoundVulvaVaginaAllergiesPap smearRh incompatibilityHemoglobin derivativesHemoglobin derivatives2006-11-04 00:38:08.0ADAM2009-11-05 08:20:02.0Hemoglobin derivativesHemoglobin derivativesHemoglobin derivativesHemoglobin derivativesBlood test10026 410026 5Blood is drawn from a vein (venipuncture), usually from the inside
of the elbow or the back of the hand. A needle is inserted into the
vein, and the blood is collected in an air-tight vial or a syringe.
Preparation may vary depending on the specific test.Cytochrome b5 reductaseHemoglobinBlood gasesCarbon monoxide poisoningMethemoglobinemiaSerum cholinesteraseSerum cholinesterase2006-11-04 00:37:51.0ADAM2009-11-05 08:34:44.0Serum cholinesteraseSerum cholinesteraseSerum cholinesteraseSerum cholinesteraseCholinestrase test9878 49878 5During a cholinestrase test, a needle is inserted into a vein and
blood is collected in an air-tight vial or a syringe. The sample is
taken to the laboratory for evaluation. The lab evaluates the
enzymes acetylcholinesterase and pseudocholinesterase, which act to
break down acetylcholine. Acetylcholine is a critical chemical in
the transmission of nerve impulses.SeizuresEnzymeLiver diseaseAnesthesiaElectroconvulsive therapyTORCH screenTORCH screen2006-11-04 00:37:42.0ADAM2009-11-05 07:28:10.0TORCH screenTORCH screenTORCH screenTORCH screenToxoplasmosisRubellaHerpes simplexInfant test/procedure preparationPectus carinatumPectus carinatum2006-11-04 00:37:05.0ADAM2009-11-05 08:14:27.0Pectus carinatumPectus carinatumPectus carinatumRibcage8787 48787 5The ribs connect on the front of the chest with the long flat
sternum, or breast bone, and on the back with the vertebral column,
creating a cage of protection for the lungs and heart.Bowed chest (pigeon breast)9011 49011 5A bowed chest is also called pectus carinatum. It is a protrusion
of the chest over the sternum often described as bird-like. Pectus
carinatum is usually only a cosmetic defect but can be associated
with other genetic diseases.Trisomy 18HomocystinuriaMarfan syndromeMorquio syndromeMultiple lentigines syndromeOsteogenesis imperfectaPectus excavatumPectus excavatum2006-11-04 00:37:04.0ADAM2009-11-05 07:56:54.0Pectus excavatumPectus excavatumPectus excavatumRibcage8787 48787 5The ribs connect on the front of the chest with the long flat
sternum, or breast bone, and on the back with the vertebral column,
creating a cage of protection for the lungs and heart.Pectus excavatum repair - seriesPectus excavatum repair - series2007-03-27 13:08:32.0ADAM2010-07-19 12:52:16.0Pectus excavatum2927 42927 5Pectus excavatum is a condition in which the "breast bone"
(sternum) appears sunken and the chest concave. It is sometimes
called "funnel chest". The majority of these cases are not
associated with any other condition (isolated findings). However,
some syndromes include pectus excavatum.Pectus excavatumMarfan syndromeRicketsHeterochromiaHeterochromia2006-11-04 00:37:03.0ADAM2009-11-05 07:54:21.0HeterochromiaHeterochromiaHeterochromiaHeterochromia17220 417220 5Heterochromia is the presence of different colored eyes in the same
person. Heterochromia in humans appears either as a hereditary
trait unassociated with other disease, as a symptom of various
syndromes or as the result of a trauma.Autosomal dominantGlaucomaColoboma of the irisColoboma of the iris2006-11-04 00:37:02.0ADAM2009-11-05 08:21:57.0Coloboma of the irisColoboma of the irisColoboma of the irisEye1094 41094 5The eye is the organ of sight, a nearly spherical hollow globe
filled with fluids (humors). The outer layer or tunic (sclera, or
white, and cornea) is fibrous and protective. The middle tunic
layer (choroid, ciliary body and the iris) is vascular. The
innermost layer (the retina) is nervous or sensory. The fluids in
the eye are divided by the lens into the vitreous humor (behind the
lens) and the aqueous humor (in front of the lens). The lens itself
is flexible and suspended by ligaments which allow it to change
shape to focus light on the retina, which is composed of sensory
neurons.Cat eye1130 41130 5A cat eye is a type of coloboma. Any defect in the iris that allows
light to enter the eye, other than through the pupil, is called a
coloboma. An extra hole or slit may be present from birth, or may
result from trauma. Colobomas may also exist in the eyelid, a
defect which interrupts the border of the eyelid.Coloboma of the iris8750 48750 5A coloboma is a defect in the iris of the eye. It can appear as a
black notch of varying depth at the edge of the pupil, giving the
pupil an irregular shape. Coloboma may be associated with
hereditary conditions, trauma to the eye, or eye surgery.IrisVision problemsRetinaChoroidPalpebral slant - eyePalpebral slant - eye2006-11-04 00:36:59.0ADAM2009-11-05 08:28:24.0Palpebral slant - eyePalpebral slant - eyePalpebral slant - eyePalpebral slant9718 49718 5The direction of the slant of a line drawn from the outer corner of
the eye to the inner corner is known as the palpebral slant. The
most commonly recognized syndrome associated with an abnormal
palpebral slant is Down's syndrome.Epicanthal foldsDown syndromeFetal alcohol syndromePupil - white spotsPupil - white spots2006-11-04 00:36:58.0ADAM2009-11-05 07:36:52.0Pupil - white spotsPupil - white spotsPupil - white spotsEye1094 41094 5The eye is the organ of sight, a nearly spherical hollow globe
filled with fluids (humors). The outer layer or tunic (sclera, or
white, and cornea) is fibrous and protective. The middle tunic
layer (choroid, ciliary body and the iris) is vascular. The
innermost layer (the retina) is nervous or sensory. The fluids in
the eye are divided by the lens into the vitreous humor (behind the
lens) and the aqueous humor (in front of the lens). The lens itself
is flexible and suspended by ligaments which allow it to change
shape to focus light on the retina, which is composed of sensory
neurons.White spots in the pupil17159 417159 5On occasion, the pupil of the eye may appear white. This is never a
normal condition and requires immediate evaluation by an
ophthalmologist. The causes of a cloudy or white cornea are
different than those of a white pupil but are also significant and
require immediate attention. Cataracts can also cause the pupil to
appear white.White pupil9313 49313 5The normal appearance of the pupil of the human eye is black. The
appearance of a white pupil is never a normal condition and
requires immediate evaluation by specialists trained in
ophthalmology. A cloudy cornea or cataract may be mistaken for a
white pupil, but usually a white pupil is due to infection or
disease.Cloudy corneaCataractColoboma of the irisCongenital cataractCongenital rubellaGalactosemiaRetinopathy of prematurityRetinoblastomaUveitisAnisocoriaEyes/pupils different size2006-11-04 00:36:56.0ADAM2009-11-05 07:51:10.0AnisocoriaAnisocoriaAnisocoriaNormal pupil9312 49312 5The pupils of an individual are usually very symmetrical in
appearance. In certain instances the pupils may vary in size.
Occasionally, differing pupil size is inherited and there is no
underlying disorder. Varying pupil size may also be due to
infection, tumors, disease or trauma.Head injuryBrain tumor - childrenAbscessGlaucomaMeningitisEncephalitisSweating - absentEyelid droopingMotormental retardationMotormental retardation2006-11-04 00:36:55.0ADAM2009-11-05 06:33:06.0Motormental retardationMotormental retardationMotormental retardationMotormental retardation17271 417271 5Motormental retardation in children is generally related to
significant central nervous system damage or abnormality. It refers
both to lack of mental development and motor development. There can
be various degrees of mental retardation, and failure to meet
various normal developmental milestones.Central nervous systemMental retardationDevelopmental milestonesCongenital rubellaToxoplasmosisTrisomy 13Fragile X syndromePrader-Willi syndromeMeningitisEncephalitisRh incompatibilityReye syndromeNeonatal hypothyroidismPhenylketonuriaTay-Sachs diseaseAicardi syndromeNiemann-Pick diseaseMetopic ridgeMetopic ridge2006-11-04 00:36:54.0ADAM2009-11-05 07:38:26.0Metopic ridgeMetopic ridgeMetopic ridgeMetopic ridge17254 417254 5A metopic ridge is a ridge of bone or suture line on the forehead
between the two halves of the frontal bone. The ridging is caused
when the two halves close prematurely.Sutures - ridgedCraniosynostosisFontanelles - excessively largeFontanelles - excessively large2006-11-04 00:36:53.0ADAM2009-11-05 07:58:32.0Fontanelles - excessively largeFontanelles - excessively largeFontanelles - excessively largeSkull of a newborn1127 41127 5The "sutures" or anatomical lines where the bony plates of the
skull join together can be easily felt in the newborn infant. The
diamond shaped space on the top of the skull and the smaller space
further to the back are often referred to as the "soft spot" in
young infants.Large fontanelles (lateral view)9334 49334 5A wide fontanelle occurs when the fontanelle is larger in size than
expected for the age of the baby. Slow or incomplete ossification
of the skull bones is most often the cause of a wide fontanelle.Fontanelles17179 417179 5Fontanelles are the "soft spots" on an infant's head where the bony
plates that make up the skull have not yet come together. It is
normal for infants to have these "soft spots", which can be seen
and felt on the top and back of the head. Fontanelles that are
abnormally large may indicate a medical condition.Large fontanelles9335 49335 5The bones of the skull are not joined together firmly at birth. The
sutures gradually accumulate minerals and harden (this process is
called ossification), firmly joining the skull bones together. In
an infant, the spaces where sutures intersect but don't completely
touch is called the "soft spot", a membrane covered area also
called a fontanelle (fontanel or fonticulus). The fontanelles allow
for growth of the skull during an infant's first year. When the
spaces of the fontanelles are larger than normal underlying causes
such as hydrocephalus may be suspected.AnteriorHypothyroidismRicketsCranial suturesDown syndromeHydrocephalusCongenital rubellaNeonatal hypothyroidismSutures - ridgedSutures - ridged2006-11-04 00:36:49.0ADAM2009-11-05 07:44:36.0Sutures - ridgedSutures - ridgedSutures - ridgedSkull of a newborn1127 41127 5The "sutures" or anatomical lines where the bony plates of the
skull join together can be easily felt in the newborn infant. The
diamond shaped space on the top of the skull and the smaller space
further to the back are often referred to as the "soft spot" in
young infants.Sutures - separatedCraniosynostosisApert syndromeSutures - separatedSutures - separated2006-11-04 00:36:48.0ADAM2009-11-05 08:37:03.0Sutures - separatedSutures - separatedSutures - separatedSkull of a newborn1127 41127 5The "sutures" or anatomical lines where the bony plates of the
skull join together can be easily felt in the newborn infant. The
diamond shaped space on the top of the skull and the smaller space
further to the back are often referred to as the "soft spot" in
young infants.VitaminsSutures - ridgedIncreased intracranial pressureFontanelles - bulgingChild abuse - physicalBrain tumor - childrenDown syndromeHydrocephalusLead poisoningMeningitisSubdural hematomaSubdural effusionHypothyroidismIncreased head circumferenceIncreased head circumference2006-11-04 00:36:46.0ADAM2009-11-05 08:00:49.0Increased head circumferenceIncreased head circumferenceIncreased head circumferenceSkull of a newborn1127 41127 5The "sutures" or anatomical lines where the bony plates of the
skull join together can be easily felt in the newborn infant. The
diamond shaped space on the top of the skull and the smaller space
further to the back are often referred to as the "soft spot" in
young infants.Head circumferenceIncreased intracranial pressureIrritabilityNausea and vomitingFontanelles - bulgingCanavan diseaseHurler syndromeHydrocephalusMorquio syndromePreauricular tag or pitPreauricular tag or pit2006-11-04 00:36:45.0ADAM2009-11-05 08:13:48.0Preauricular tag or pitPreauricular tag or pitPreauricular tag or pitNewborn ear anatomy9529 49529 5Many normal children are born with ears that are less than perfect
and that may stick out. However, low-set ears, absent pinna, and
abnormal folds can be associated with various conditions.Short philtrumShort philtrum2006-11-04 00:36:42.0ADAM2009-11-05 07:39:47.0Short philtrumShort philtrumShort philtrumPhiltrum9012 49012 5The philtrum is the midline groove in the upper lip that runs from
the top of the lip to the nose. The way the philtrum appears is
determined genetically. In some syndromes this grove is shortened.The face1095 41095 5The physical landmarks of the human face are very similar from one
face to another.GeneticsFrontal bossingFrontal bossing2006-11-04 00:36:41.0ADAM2009-11-05 07:30:01.0Frontal bossingFrontal bossingFrontal bossingFrontal bossing17183 417183 5Frontal bossing is the descriptive term for a prominent forehead.
Sometimes the brow (just above the eyes) is also heavier than
normal as seen in acromegaly.AcromegalyBasal cell nevus syndromeCongenital syphilisCleidocranial dysostosisHurler syndromeRubinstein-Taybi syndromeRussell-Silver syndromeHypotoniaHypotonia2006-11-04 00:36:38.0ADAM2009-11-05 08:25:58.0HypotoniaHypotoniaHypotoniaHypotonia17229 417229 5Hypotonia is often a sign of abnormality in the case of a newborn
or older infant, and may suggest the presence of central nervous
system dysfunction, genetic disorders, or muscle disorders.
Hypotonic infants rest with their elbows and knees loosely
extended, while infants with normal tone tend to have flexed elbows
and knees. Head control may be poor or absent in the floppy infant
with the head falling to the side, backward or forward.Central nervous system8679 48679 5The central nervous system is comprised of the brain and spinal
cord. The peripheral nervous system includes all peripheral nerves.Central nervous systemPrader-Willi syndromeRh incompatibilityAcute cerebellar ataxiaInfant botulismRiley-Day syndromeTrisomy 13Vaccine reactionAchondroplasiaAicardi syndromeCanavan diseaseNeonatal hypothyroidismDown syndromeHypervitaminosis DKlinefelter syndromeKrabbe diseaseMarfan syndromeMenkes syndromeMetachromatic leukodystrophyMethylmalonic acidemiaMyasthenia gravisMuscular dystrophyRicketsSepsisSpinal muscular atrophyTay-Sachs diseaseClubbing of the fingers or toesClubbing of the fingers or toes2006-11-04 00:36:20.0ADAM2009-11-05 07:48:51.0Clubbing of the fingers or toesClubbing of the fingers or toesClubbing of the fingers or toesClubbing1598 41598 5Clubbing may result from chronic low blood-oxygen levels. This can be seen with cystic fibrosis, congenital cyanotic heart disease, and several other diseases. The tips of the fingers enlarge and the nails become extremely curved from front to back.Clubbed fingers18127 418127 5Clubbed fingers is a symptom of disease, often of the heart or
lungs which cause chronically low blood levels of oxygen. Diseases
which cause malabsorption, such as cystic fibrosis or celiac
disease can also cause clubbing.Skin discoloration - bluishBronchiectasisCeliac disease - sprueCirrhosisTetralogy of FallotTotal anomalous pulmonary venous returnTransposition of the great vesselsPulmonary atresiaTruncus arteriosusCrohn's diseaseCystic fibrosisLung cancerHepatomegalyHepatomegaly2006-11-04 00:36:12.0ADAM2009-11-05 07:58:24.0HepatomegalyHepatomegalyHepatomegalyHepatomegaly9396 49396 5Hepatomegaly is enlargement of the liver beyond its normal size.
Certain conditions such as infection, parasites, tumors, anemias,
toxic states, storage diseases, heart failure, congenital heart
disease, and metabolic disturbances may all cause an enlarged
liver.Liver fattening, CT scan1178 41178 5A CT scan of the upper abdomen showing a fatty liver (steatosis of
the liver). Note the liver enlargement and dark color compared with
the spleen (gray body in lower right).Liver with disproportional fattening, CT scan1179 41179 5A CT scan of the upper abdomen showing disproportional steatosis
(fattening) of the liver.AnemiaSplenomegalyHeart failureHepatitis AHepatitis BHepatocellular carcinomaNeuroblastomaPrimary biliary cirrhosisSarcoidosisSclerosing cholangitisLiver metastasesNews (more_index_1_1_1)FYI (more_index_1_1_3)Health Tip: Amniocentesis Can Identify Birth DefectsWhat the test can tell you2007-03-28 00:00:00.0HealthDay2007-10-20 13:29:45.0PreeclampsiaPlacenta PreviaMigraineCluster HeadachesDysmenorrhea
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Nutrition MilestonesAnencephalyAmniocentesisRh incompatibilitySpina BifidaDown syndrome