Glossary for Stillbirth

Medical terms related to Stillbirth or mentioned in this section include:

• $11q Partial Trisomy$: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• $3-Hydroxyisobutyric aciduria$: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
• Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
• Achondrogenesis: A type of dwarfism where the main limbs are short and the head and trunk are hydropic (contain an accumulation of clear fluid).
• Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
• Achondrogenesis type 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
• Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
• Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
• Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acrorenal syndrome: A rare lethal syndrome characterized limb anomalies and kidney malformations.
• Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
• Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
• Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
• Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
• Al Gazali Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
• Allanson-Pantzar-McLeod syndrome: A rare genetic disorder where abnormal development of kidney tubules results in severe kidney problems that start during the fetal stage.
• Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
• Anencephaly and spina bifida X-linked: A severe X-linked malformation syndrome involving anencephaly where a part or all of the brain and associated skull is missing as well as a defect or opening in the spinal column.
• Anophthalmia - hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Anorectal atresia: Congenital malformation where the anal or rectal opening is obstructed. The malformation is often associated with other abnormalities.
• Aorto-ventricular tunnel: A rare heart defect where a tunnel from between the ascending aorta and the cavity of the left or sometimes right heart ventricle. The severity of the condition is highly variable from asymptomatic for many years to fetal death. Often other heart anomalies are also associated.
• Arthrogryposis - renal dysfunction - cholestasis syndrome: A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Astley-Kendall syndrome: A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy.
• Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
• Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
• Birth symptoms: Symptoms related to childbirth.
• Blepharophimosis - nasal groove - growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis - nasal groove - growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
• Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
• Bone dysplasia, lethal, Holmgren type: A rare lethal bone malformation syndrome.
• Calcitriol - Teratogenic Agent: There is strong evidence to indicate that exposure to Calcitriol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
• Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidneys as well as the muscles.
• Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
• Chagas disease: A parasitic infection caused by the protozoa Trypanosoma cruzi and transmitted by insect bites or blood transfusions. The disease primarily involves the heart and gastrointestinal system.
• Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
• Chondrodysplasia punctata, brachytelephalangic: A rare disorder characterized by abnormal bone development involving stippled (speckled) calcification of growing ends of long bones. The main features of this disorder are retarded growth, facial anomalies and short end bones in fingers.
• Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chromosome 1, Partial Trisomy: A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of the genetic material duplicated.
• Chromosome 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
• Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
• Chromosome 1, pter-p36: A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable.
• Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
• Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Chromosome 11, Partial Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
• Chromosome 16, uniparental disomy: A rare chromosomal disorder where an extra copy of chromosome 16 is inherited from one parent only.
• Chromosome 20, trisomy: A rare chromosomal disorder where there are three copies of chromosome 20 rather than the normal two which results in severe abnormalities and death.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Chromosome 21, monosomy 21q22: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
• Colavita-Kozlowski syndrome: A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth.
• Congenital microvillous atrophy: A birth disorder involving a defect in the cells lining the intestines which results in watery diarrhea from birth which can be life threatening if not treated.
• Congenital syphilis: Syphilis inherited from mother during pregnancy.
• Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
• Cystic adenomatoid malformation of lung: A rare birth condition where the lungs fail to develop normally during the fetal stage and cysts form in parts of the lung instead of normal alveolar tissue.
• Cystic hygroma, lethal - cleft palate: A very rare lethal syndrome characterized mainly by cysts that form in the lymphatic system as well as an opening in the palate (cleft palate).
• Czeizel syndrome: A rare lethal syndrome characterized by cleft palate, uterus abnormalities and omphalocele (protrusion of abdominal organs such as intestine through the navel).
• Death: The loss of life.
• Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Diffuse neonatal hemangiomatosis: A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities.
• Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.
• Diphallus - rachischisis - imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
• Distal Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Dup (1) (q23-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q23-qter) of chromosome one and the short arm of chromosome 3 (pter- p25) is duplicated. In the reported case, the infant died soon after birth.
• Dup(1) (q24-q31.2): A very rare chromosomal disorder where a portion of the long arm (q24-q31.2) of chromosome one is duplicated. In the reported case, death occurred within hours of birth.
• Dysgnathia complex: A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable.
• Dysplastic cortical hyperostosis: A very rare syndrome characterized mainly by abnormal bone and brain development.
• Eclampsia: serious complication of pregnancy and is characterised by high blood pressure and convulsions
• Elliptocytosis 1: An inherited blood disorder where a significant number of red blood cells (erythrocytes) are elliptical or oval shaped rather than doughnut shaped. Anemia results when the abnormal red blood cells are destroyed. The severity of the anemia is variable with some cases resulting in fetal death and others being relatively asymptomatic. Type 1 is caused by a defect in the gene on chromosome 1p36.2-p34 for a protein in the red cell membrane.
• Ellis-Yale-Winter syndrome: A rare condition characterized by the association of a small head, congenital heart disease, lung segmentation defects and a missing kidney.
• Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
• Epiphyseal stippling syndrome - osteoclastic hyperplasia: A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine.
• Ethanol - Teratogenic Agent: There is evidence to indicate that exposure to Ethanol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Exencephaly: A rare, fatal birth defect where parts of the skull bones are missing causing the brain to protrude.
• Eye defects - arachnodactyly - cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
• Faciocardiorenal syndrome: A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases.
• Familial intestinal polyatresia syndrome: A rare birth malformation where the intestines are closed off or absent.
• Familial visceral myopathy: A rare condition where the duodenum is dilated and the muscles don't function normally which affects the movement of digestive waste material through the intestines. The symptoms of the condition are similar to that caused by an intestinal obstruction.
• Female pseudohermaphrodism - anorectal anomalies: A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies.
• Female reproductive toxicity - Polychlorinated biphenyls (PCBs): There is limited conflicting evidence which indicates that some women exposed to Polychlorinated biphenyls may suffer adverse effects as a result. Low birth weight, hyperpigmentation and menstrual disorders are possible adverse effects and are generally only considered possible in cases of chronic exposure.
• Fetal akinesia syndrome, X-linked: A rare syndrome where the fetus is unable to move or has reduced mobility due to brain defects.
• Fetal death: The sudden unexpected death of a fetus
• Fetal indomethacin syndrome: Fetal exposure to indomethacin which is a nonsteroidal anti-inflammatory drug. The drug can pass through the placenta from the mother to the baby and cause various problems depending on what stage of development the fetus is at.
• Fetal left ventricular aneurysm: A rare disorder where the fetus has a dilated ventricle on the left side of the heart. Severity of the defect is variable with some cases being asymptomatic and in other heart failure occurs during the fetal stage.
• Finnish lethal neonatal metabolic syndrome: A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death.
• Fraser Syndrome: A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn.
• Fraser-like syndrome: A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities.
• Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.
• Frontonasal dysplasia - phocomelic upper limbs: A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities.
• Gay-Feinmesser-Cohen syndrome: A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx.
• Generalized pustular psoriasis of pregnancy: A form of psoriasis that occurs during the third trimester of pregnancy and is characterized by pustules rather the skin bumps. The skin under and around the pustules is red and variable areas of skin may be involved. The pustules tends to occur in localized areas and then spreads to other parts of the body. It usually tends to recur during following pregnancies or with subsequent use of oral contraceptives.
• Gestational diabetes: The occurrence of diabetes that's onset occurs during pregnancy
• Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
• Grebe Syndrome: A rare genetic disorder characterized by very short limbs and extra fingers and toes.
• HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
• Heart defects - limb shortening: A very rare syndrome characterized mainly by short limbs and heart defects.
• Hemolytic anemia, lethal - genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
• Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
• Holoprosencephaly - caudal dysgenesis: A very rare syndrome where the tailbone and the portion above the tailbone (coccyx and sacrum) fail to develop. The brain also fails to divide into two lobes resulting in a single-lobed brain
• Holoprosencephaly - ectrodactyly - cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
• Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
• Human parvovirus B19 infection - fetal: Fetal infection with human parvovirus B19.
• Hurst-Hallam-Hockey syndrome: A group of malformation described in a stillborn infant. Defects include leptomeningeal angiomatosis (abnormal blood vessels in sheath surrounding brain and spinal cord), heart disease, cleft lip and palate and brain abnormalities.
• Hydrocephaly corpus callosum agenesis diaphragmatic hernia: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia.
• Hydrops fetalis: Abnormal accumulation of fluid in the fetus which can be fatal. Excessive fluid leaves the blood and enters the tissues. It can have non-immune and immune (mother's immune system destroys fetal red blood cells).
• Hydrops fetalis syndrome due to Beta-thalassemia: Abnormal accumulation of fluid in the fetus which can be fatal. The condition is caused by a blood abnormality (absence of Beta-globulin genes - Beta-thalassemia).
• Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
• Hypomandibular faciocranial dysostosis: A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue.
• Hypoplastic thumbs - hydranencephaly: A very rare syndrome characterized mainly by underdeveloped thumb and abnormal brain development where the cerebral space is filled with cerebrospinal fluid instead of brain tissue.
• Ichthyosis - alopecia - eclabion - ectropion - mental retardation: A very rare syndrome characterized mainly by scaly skin, hair loss, mental retardation and outwardly turned eyelids and lips.
• Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Intrauterine Growth Retardation: Slowly growing fetus in the womb during pregnancy
• Intrauterine infections: Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a miscarriage.
• Ives-Houston syndrome: A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth.
• Japanese encephalitis: A form of encephalitis caused by a flavivirus (Japanese B encephalitis virus - JBEV) and transmitted by mosquito bites. Most cases are mild and asymptomatic but severe cases can lead to death.
• Johnson-Hall-Krous syndrome: A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities.
• Johnston Aarons Schelley syndrome: A very rare lethal syndrome characterized mainly by contractures and thickened skin.
• Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
• Kennerknecht-Sorgo-Oberhoffer syndrome: A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart.
• Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
• Kniest-like dysplasia lethal: A lethal syndrome characterized primarily by severe skeletal abnormalities.
• Kosztolanyi syndrome: A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities.
• Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Larsen-like syndrome, lethal form: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation.
• Larsen-like syndrome, lethal type: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
• Laryngeal web congenital heart disease short stature: A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx.
• Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
• Lethal arthrogryposis with anterior horn cell disease: A lethal genetic disorder involving multiple contractures and facial abnormalities.
• Lethal arthrogryposis with anterior horn cell disease (LAAHD): A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement.
• Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Lethal chondrodysplasia, Seller type: A very rare lethal syndrome characterized mainly by angulated long bones and variation in bone density throughout the body.
• Lethal congenital contracture syndrome (LCCS): A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webbing and fractures were usually absent.
• Lethal congenital contracture syndrome 1: A rare inherited lethal disorder characterized by multiple congenital contractures. Type 1 occurs as a result of a genetic defect on chromosome 9q34.
• Limb-body wall complex: A rare condition where disruption of the amniotic band system can result in head, heart, lung, diaphragm, kidney or gonad abnormalities .
• Lissencephaly type III - metacarpal bone dysplasia: A rare syndrome characterized by an abnormally smooth brain as well as abnormal bone development in the hands.
• Listeriosis: Bacterial food poisoning
• Listeriosis - granulomatous infantiseptica: Listeria monocytogenes infection that is transmitted from a pregnant woman to the fetus.
• Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
• Lower limb anomaly - ureteral obstruction: A very rare syndrome characterized mainly by an obstructed ureter and a leg anomaly.
• Lowry syndrome: A rare disorder characterized by the premature fusion of skull bones, absent or defective lower leg bone (fibula) and various other abnormalities.
• Lurie-Kletsky syndrome: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia.
• Lyme disease: Lyme disease is an emerging infectious disease caused by at least three species of bacteria belonging to the genus Borrelia.
• Lymphangiomatosis, pulmonary: A rare disorder characterized by the presence of numerous small lung cysts at birth which severely affects breathing and blood pressure and generally results in infant death.
• Malformations in neuronal migration: A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the most common symptoms associated with brain malformations.
• Maroteaux-Stanescu-Cousin syndrome: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Meckel syndrome type 2: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes.
• Meckel syndrome type 3: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 3 differs from the other types in the location of the genetic defect and by the fact that meningoencephaloceles and extra fingers tend to occur less frequently.
• Meckel syndrome, type 5: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 5 is caused by a defect in the RPGRIP1L gene on chromosome 16q12.2.
• Mefloquine - Teratogenic Agent: There is evidence to indicate that exposure to Mefenamic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mental retardation - myopathy - short stature - endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
• Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
• Microlissencephaly - micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
• Microphthalmia syndromic, type 9: A rare inherited disorder characterized by small or absent eyes and lung, heart and diaphragmatic abnormalities. The disorder is caused by a defect on the STRA6 gene.
• Miscarriage: Symptoms related to miscarriage or stillbirth.
• Monosomy 8q21 q22: A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.
• Morse-Rawnsley-Sargent syndrome: A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
• Mullerian derivatives - lymphangiectasia - polydactyly: A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia.
• Multicystic Renal Dysplasia: A congenital kidney defect where the renal cortex has multiple abnormally cysts which can be of varying sized. One or both kidneys may be affected to varying degrees which results in variable severity of symptoms. Often there are other associated kidney defects which can also affect the prognosis of the condition. If both kidneys are involved, death usually occurs around the time of birth but if only one kidney is involved, there are usually no symptoms.
• Multicystic renal dysplasia, bilateral: A rare congenital disorder where multiple cysts develop in the kidneys which affects their ability to function normally. The condition is results in death prior to or within weeks of birth.
• Multiple congenital anomalies - mental retardation - growth failure and cleft lip/ palate: A very rare syndrome characterized mainly by mental retardation, growth failure, cleft lip, cleft palate and various other abnormalities.
• Neonatal hepatitis: A rare life-threatening condition where iron accumulates in the liver of the fetus and produces severe symptoms after birth. Death is common during the fetal or infant stage.
• Novak syndrome: A very rare syndrome characterized mainly underdeveloped lungs and by an abnormal opening in the area of the larynx, trachea and esophagus.
• Oculo cerebro acral syndrome: A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• Perinatal hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth.
• Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
• Placenta conditions: Any condition that affects the placenta
• Platyspondylic lethal skeletal dysplasia, Torrance type: A very rare inherited condition involving severe bone growth problems and often resulting in death before or soon after birth.
• Polydactyly visceral anomalies cleft lip palate: A rare syndrome characterized mainly by the association of extra digits, cleft lip and/or palate and visceral anomalies. Various other abnormalities may also be present.
• Polyhydramnios: Excess amniotic fluid around a fetus in the womb. The condition may occur as a result of gastrointestinal, neurological, lung or other disorders. Mild cases are asymptomatic but more severe cases can result in problems for the mother and the baby.
• Polysyndactyly - cardiac malformation: A very rare syndrome characterized mainly by an extra toe, webbed fingers and heart malformations.
• Pontocerebellar hypoplasia with infantile spinal muscular atrophy: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The disorder is lethal with death usually occurring within the first year. The brain progressively degenerates.
• Pregnancy symptoms: Symptoms related to pregnancy.
• Pregnancy toxemia /hypertension: Preeclampsia is the development of high blood pressure, excess protein in the urine and swelling during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The blood pressure usually returns to normal after delivery.
• Proud-Levine-Carpenter syndrome: A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
• Proximal spinal muscular atrophy: A rare group of muscle disorders which mainly affects the muscles closest to the trunk of the body. Muscles become progressively weak and wasted due to damage to motor neurons in the spinal cord and brainstem.
• Pulmonary atresia - intact ventricular septum: A very rare heart defect where the opening that allows blood to travel from the heart to the lung is narrowed or absent which impairs the body's ability to oxygenate blood. Death generally occurs without immediate medical attention.
• Pulmonary cystic lymphangiectasis: A rare congenital condition where the lungs fail to develop normally. The disorder is characterized by the presence of dilated lymph ducts throughout the lungs.
• Pulmonary hypoplasia familial primary: A rare malformation where the lungs fail to develop properly. Death often occurs as a result.
• Pulmonary lymphangiectasia, congenital: A rare congenital condition where the lungs fail to develop normally. The disorder is characterized by the presence of dilated lymph ducts throughout the lungs.
• Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
• Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
• Raine syndrome: A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
• Renal dysplasia - limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
• Reproductive toxicity - Vinyl Chloride: Vinyl Chloride is a suspected reproductive toxicant and exposure to it has the potential to negatively affect the human reproductive system. Vinyl Chloride is used mainly to make PVC products. The severity and nature of the adverse effect is variable and can be influenced by factors such as sex, level of exposure and individual sensitivity to the chemical. Effects on the female reproductive systems can include such things as menstrual problems, altered sexual behavior, infertility, altered puberty onset, altered length of pregnancy, lactation problems, altered menopause onset and pregnancy outcome. Effects on the male reproductive system can include such things as altered sexual behavior, altered fertility and problems with sperm shape or count.
• Rh Disease: A disease that can occur when the mother's blood is not compatible with the fetal blood i.e. when an Rh-negative mother had a Rh-positive child. If the baby's blood is exposed to the mother's blood (through placenta, abortion, miscarriage, amniocentesis) the mother's body becomes sensitized and develops antibodies the Rh-positive blood. In future pregnancies, the mother's antibodies can attack the red blood cells of the unborn baby resulting in hemolytic disease. The severity of the disease is variable and can range from mild fetal anemia to severe anemia and even fetal death.
• Rhesus isoimmunisation: The antibody mediated destruction of red blood cells by those sensitive
• Rokitansky Van Bogaert syndrome: A rare disorder characterized by pigmentation abnormalities of the skin and brain which causes various neurological symptoms as well as skin nevi.
• Rubella congenital syndrome: The transplacental infection of a fetus with rubella
• Rudd-Klimek syndrome: A very rare syndrome characterized mainly by abnormal development of the tailbone with deformities of the urogenital area as well as other anomalies.
• Saal-Bulas syndrome: A very rare syndrome characterized mainly by lobster-like hands, diaphragmatic hernia and a brain abnormality.
• Samson-Viljoen syndrome: A very rare syndrome characterized by small ears, abnormal chest wall and facial, lip and palate clefts.
• Schneckenbecken dysplasia: A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. The condition generally results in stillbirth or death soon after birth.
• Seckel-like syndrome, Majoor-Krakauer type: A very rare syndrome characterized by numerous abnormalities including poor fetal growth, reduced amniotic fluid and heart, brain spleen and kidney anomalies.
• Short limb dwarf lethal, Mcalister Crane type: A very rare syndrome characterized mainly by short arms and legs and resulting in stillbirth or infant death.
• Short limb dwarfism, Al Gazali type: A very rare lethal disorder involving severe limb shortening and other skeletal deformities.
• Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Skeletal dysplasia, San Diego type: A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth.
• Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
• Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
• Smoking: The smoking of cigarettes
• Spondylocostal dysostosis, autosomal recessive: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.
• Stillbirth in pregnancy: Delivery of a baby who is deceased prior to birth, after twenty weeks gestation.
• Succinic acidemia: A rare metabolic disorder characterized by high levels of succinic acid in the blood.
• Symmetrical thalamic calcifications: A very rare disorder involving the calcification of a part of the brain called the thalamus which results in various abnormalities.
• Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
• Tetraamelia - multiple malformations: A very rare syndrome characterized mainly by a lack of arm and leg bones (hands and feet are still present) as well as other malformations.
• Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.
• Thakker-Donnai syndrome: A very rare, severe genetic syndrome characterized by abnormal internal organs and facial anomalies.
• Thalamic degeneration symmetrical infantile: A very rare brain disorder characterized by abnormal brain development, seizures, respiratory distress and movement disorders.
• Thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. There are two subtypes of the disorder (? and ?) depending on what portion of the hemoglobin is abnormally synthesized. Each of these subtypes can be further classified depending on the number of thalassemia genes involved. A total of four genes is needed to make each ? protein chains and two genes are needed to make each ? chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Thanatophoric dysplasia, Glasgow variant: A lethal form of dwarfism.
• Thin ribs - tubular bones - dysmorphism: A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head.
• Thomas-Jewett-Raines syndrome: A very rare syndrome characterized mainly by small eyes, small ears and a lack of fetal movement.
• Thoraco abdominal enteric duplication: A very rare syndrome characterized by chest and abdominal abnormalities as well as intestinal duplication.
• Thymic-Renal-Anal-Lung dysplasia: A rare syndrome characterized by abnormalities involving the lungs, anus, kidneys and thymus.
• Tollner-Horst-Manzke syndrome: A very rare syndrome characterized by extra fingers, cleft lip, cleft palate and abdominal organ anomalies.
• Toxoplasmosis: Infection often caught from cats and their feces.
• Tracheoesophageal fistula - hypospadias: A rare syndrome characterized by an abnormal opening between the trachea and esophagus and abnormal positioning of urethral opening in males.
• Transplacental infections: An infection that passes from the mother to the fetus via the placenta. A large variety of infections can occur like this and the type and severity of symptoms can vary greatly depending on the type of infection and the stage of fetal development at which infection occurs. Examples of transplacental infections include cytomegalovirus, herpes virus, hepatitis, syphilis, toxoplasmosis and rubella.
• Triose phosphate-isomerase deficiency: A very rare inherited condition involving a deficiency of triose phosphate-isomerase.
• Triploid syndrome: A complete extra set of chromosomes.
• Urinary tract infection: Infection of the urinary tract
• Urophathy distal obstructive polydactyly: A rare syndrome characterized by extra digits and an obstructive urinary system disorder.
• VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• Vocal cord dysfunction familial: A rare inherited disorder where the vocal cord closes while breathing in which causes breathing difficulty which can be severe in some cases. Mental retardation is also associated.
• Whole-body acute irradiation - cerebral syndrome: Tissue injury can result from exposure to radiation. The radiation dose, rate of dosing and tissues irradiated will determine the severity and type of symptoms. The effects may be chronic, delayed or acute. Cerebral radiation syndrome involves exposure of the whole body to very high exposure to radiation (3,000 rads or more).
• Whole-body acute irradiation - hematopoietic syndrome: Tissue injury can result from exposure to radiation. The radiation dose, rate of dosing and tissues irradiated will determine the severity and type of symptoms. The effects may be chronic, delayed or acute. Hematopoietic syndrome involves exposure of the whole body to radiation of 200-1,000 rads.

 » Next page: Stillbirth in pregnancy

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