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Diseases » Premature Birth » Glossary

Glossary for Premature Birth

Achondrogenesis: A group of disorders characterized by abnormal bone and cartilage development.
Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
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, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
Anemia of pregnancy: Anemia of pregnancy is anemia that occurs during pregnancy. Women's bodies have a greater demand for iron during pregnancy and if intake is not sufficient, anemia can result. Anemia in pregnant women can lead to infant problems such as premature birth, fetal death, retarded growth and other problems.
Antiphospholipid syndrome: An autoimmune disorder characterized by blood clots and pregnancy losses.
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.
Asthma in pregnancy: Asthma in pregnancy refers to inflammation and constriction of the airways that is occurs during pregnancy. Women who are pregnancy may decide to stop taking their asthma medication in order to reduce the perceived risk of side effects to the developing fetus. The reality is that the potential harmful effects on the fetus are very small compared to the problems caused to mother and fetus if a severe asthma attack develops. Furthermore, uncontrolled asthma during pregnancy may also cause problems such as small birth weight or premature birth. Pregnant women should consult their physician in order to determine the optimal management of their condition. During pregnancy, asthma symptoms may become worse, improve or stay the same.
Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
Bilateral renal agenesis dominant type: A rare birth defect where both kidneys are absent. The disorder results in death within days of birth.
Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
Breast Feeding: Nursing an infant with breast milk.
Bébé Collodion syndrome: A rare birth abnormality where an infant is born covered in a tight, yellow, shiny membrane. The membrane peels off and may reform several times. As the membrane dries it can leave crack which can result in infection, dehydration or inability to control body temperature. The tight skin can also affect breathing and feeding ability or impair blood supply to limbs. In mild cases the underlying skin may be normal. 10% of cases resolve themselves within a few weeks of birth.
Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
Caudal appendage - deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
Cervical Teratoma: A cervical teratoma is a very rare form of germ cell tumor that occurs in the neck. These tumors usually develop in the fetus and tend to be large and benign even though they grow continually. In rare cases they can occur in adults in which case they tend to be malignant. These tumors can be quite large and cause problems in other neck structures. Sometimes surgery is required in the uterus or during delivery in order to ensure the infant has access to an airway.
Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
Chlamydia: Common sexually transmitted disease often without symptoms.
Chromosome 10, trisomy 10pter p13: A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
Classical Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent.
Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
Congenital chloride diarrhea: A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb.
Congenital disorder of glycosylation type 1/IIX: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type I/IIX refers to cases where the specific abnormality cannot be determined.
Congenital vaccinia: Congenital vaccinia is where the fetus becomes infected with vaccinia. This can occur when vaccination is administered during pregnancy - vaccination during the third trimester appears to be the most likely to result in fetal infection. The newborn is born with severe skin lesions and death generally occurs before or soon after birth.
Corneodermatoosseous syndrome: A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems.
Cryptorchidism: Misplaced testes hidden in the abdomen at birth
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.
D-minus hemolytic uremic syndrome (D-HUS) - pregnancy related: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure. This type is not associated with diarrhea and is triggered by pregnancy.
Diethylstilbestrol antenatal infection: A very rare syndrome characterized mainly caused by exposure to diethylstilbestrol (used to prevent complications during pregnancy such as miscarriage and prematurity) during pregnancy
Diffuse neonatal hemangiomatosis: A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities.
Diphallus - rachischisis - imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
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) (q25-qter) and del (18p): A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing.
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.
EDS V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
Ehlers-Danlos syndrome: A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group.
Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
Ehlers-Danlos syndrome type II: A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and poor wound healing - a milder form of Type 1 with hypermobility limited to hands and feet.
Ehlers-Danlos syndrome type V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
Esophageal Atresia and/or Tracheoesophageal Fistula: A rare condition characterized by an underdeveloped esophagus where the esophagus is not connected to the stomach. An abnormal opening between the trachea and esophagus may or may not also be present. The two abnormalities usually occur together.
Esophageal atresia with tracheoesophageal fistula: A rare condition characterized by an abnormal opening between the trachea and esophagus as well as an underdeveloped esophagus where the esophagus is not connected to the stomach.
Female reproductive toxicity: There is mounting evidence which indicates that exposure to certain agents may produce adverse reproductive or fetal developmental effects. The possible range of effects includes reduced fertility, low birth weight, childhood cancer, spontaneous abortion and birth defects. Agents which may be implicated in these adverse effects includes anticancer drugs, carbon disulfide, carbon monoxide, lead, pesticides, organic solvents and tobacco smoke.
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.
Fibular aplasia - ectrodactyly: A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet.
Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
Fraser-like syndrome: A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities.
Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.
Gaucher disease - perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
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.
Genital herpes: Sexually transmitted infection of the genital region.
Gms syndrome: A rare syndrome characterized by mental retardation, short stature and an eye abnormality.
Group B Streptococcal Infections: "Strep" bacteria that may affect newborns and the immune-compromised; compare strep A.
HEC syndrome: A very rare syndrome characterized mainly by excess fluid inside the skull, cataracts and thickening of the heart.
Harlequin type ichthyosis: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
Hepatoblastoma: A primary malignant liver tumor which is rare in infants and children.
Herpes virus antenatal infection: Transmission of the herpes virus from the mother to the baby during the fetal stage.
Herpetic embryopathy: Transmission of the herpes virus from the mother to the baby during the fetal stage.
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
Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
Ichthyosis congenita, Harlequin fetus type: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
Ichthyosis congenita, harlequin type: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
Ichthyosis prematurity syndrome: A very rare syndrome characterized mainly by premature birth with a thick layer of skin that peels to leave dry, scaly, thickened skin.
Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.
Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
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.
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 transversal defect - cardiac anomaly: A very rare syndrome characterized mainly by heart anomaly and leg and hand malformations involving missing bones.
Listeriosis - granulomatous infantiseptica: Listeria monocytogenes infection that is transmitted from a pregnant woman to the fetus.
Lupus: Autoimmune disease with numerous effects on various organs and linings.
Menkes Disease: Genetic disease of copper deficiency.
Mental retardation - unusual facies - talipes - hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.
Mental retardation, X-linked, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
Neonatal Jaundice: Common skin yellowing jaundice in newborn babies.
Pachygyria - mental retardation - seizures: A very rare syndrome characterized by mental retardation and seizures caused by abnormal structural brain development called pachygyria.
Pena Shokeir syndrome, type 1: 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.
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.
Podder-Tolmie syndrome: A rare syndrome characterized mainly by athtrogryposis, underdeveloped thumbs and meningoencephalocele.
Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid.
Pregnancy: The condition of supporting a fetus from conception till birth.
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.
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.
Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
Pyridoxamine 5-prime-phosphate oxidase deficiency: A metabolic disorder involving a deficiency of an enzyme called 5-prime-phosphate oxidase. Symptoms start soon after birth and involves seizures and other anomalies.
Renal dysplasia hepatic fibrosis dandy walker: A rare syndrome characterized mainly by abnormal kidneys, liver fibrosis and a Dandy-Walker brain malformation.
Renal tubular transport disorders, inborn: Genetic defects in the transporters and channels along the kidney tubules that help to regulate body fluids as well as defects in the receptors and enzymes involved in the process. Examples of such disorders include nephrogenic diabetes insipidus and hereditary renal hypouricemia. Symptoms are determined by the exact nature of the disorder.
Retinopathy of prematurity: Eye problems that occur in premature underweight infants who are exposed to a high oxygen environment.
Samson-Viljoen syndrome: A very rare syndrome characterized by small ears, abnormal chest wall and facial, lip and palate clefts.
Sanderson-Fraser syndrome: A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).
Schisis association: A medical term used to describe any condition involving two or more malformations of certain types. Malformations can include such things as oral clefts, neural tube defects, diaphragmatic hernias and omphaloceles.
Seghers syndrome: A very rare syndrome characterized mainly by spinal abnormalities and abnormal throat development where the throat opening at the back of the mouth is absent.
Semmerkrot-Haraldsson-Weenaes syndrome: A very rare syndrome characterized mainly by anemia, missing thumb, an immune disorder and an excessive buildup of fluid in the fetus or newborn (hydrops fetalis).
Sequeiros-Sack syndrome: A very rare syndrome characterized mainly by nail abnormality, thin skin and sparse scalp hair.
Sexually Transmitted Diseases: Various diseases spread by sexual contact.
Single upper central incisor: A very rare syndrome characterized by various defects in the middle of the face.
Spinal dysostosis, type Anhalt: A very rare syndrome characterized by various spinal abnormalities.
Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
Sudden Infant Death Syndrome: SIDS is a syndrome marked by the symptoms of sudden and unexplained death of an apparently healthy infant aged one month to one year.
Trichomoniasis: Sexually transmitted parasitic infection.
Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
Tsukuhara syndrome: A very rare syndrome characterized mainly by a curved spine, premature fusion of skull bones and a small head.
Tucker syndrome: A rare syndrome characterized by vocal cord paralysis and droopy eyelids.
Undescended Testicle: Congenital failure of one or both testes to descend
Uterus conditions: Any condition that affects the female uterus
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).
Vagina conditions: Any condition that affects the female vagina
Van Regemorter Pierquin Vamos syndrome: A syndrome which is characterised by multiple congenital abnormalities
Velofacioskeletal syndrome: A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities.