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Simpson–Golabi–Behmel Syndrome
Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities. The syndrome is inherited in an X-linked recessive fashion, where males express the phenotype and females usually do not. Females that possess one copy of the mutation are considered to be carriers of the syndrome and may express varying degrees of the phenotype. Types There are two types of SGBS, each found on a different gene: SGBS is also considered to be an overgrowth syndrome (OGS). OGS is characterized by a 2-3 standard deviation increase in weight, height, or head circumference above the average for sex and age. One of the most noted features of OGS is the increased risk of neoplasms in certain OGSs. SGBS in particular has been found to have a 10% tumor predisposition frequency with 94% of cases occurring in the abdominal region, most being malignant. It is common for tumors to be embryonal in type and appear before th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499, and the total, including vaguely defined trait ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pectus Excavatum
Pectus excavatum is a structural deformity of the anterior thoracic wall in which the sternum and rib cage are shaped abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or develop after puberty. Pectus excavatum can impair cardiac and respiratory function and cause pain in the chest and back. People with the condition may experience severe negative psychosocial effects and avoid activities that expose the chest. Signs and symptoms The hallmark of the condition is a sunken appearance of the sternum. The most common form is a cup-shaped concavity, involving the lower end of the sternum; a broader concavity involving the upper costal cartilages is possible. The lower-most ribs may protrude ("flared ribs"). Pectus excavatum defects may be symmetric or asymmetric. People may also experience chest and back pain, which is usually of musculoskeletal origin. In mild cases, cardiorespiratory function is normal, although the heart c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive Disorders
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected fath ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Adipocyte Biology
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically modern huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beckwith–Wiedemann Syndrome
Beckwith–Wiedemann syndrome (; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (97th centile) * Macroglossia * Hemihyperplasia (asymmetric overgrowth of one or more regions of the body) * Omphalocele (also called exomphalos) or umbilical hernia * Embryonal tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma) in childhood * Visceromegaly involving one or more intra-abdominal organs including liver, spleen, kidneys, adrenal glands, and/or pancreas * Cytomegaly of the fetal adrenal cortex (pathognomonic) * Renal abnormalities including structural abnormalities, nephromegaly, nephrocalcinosis, and/or later development of medullary sponge kidney * Anterior linear ear lobe creases and/or posterior helical ear pits * Placental mesenchymal dysplasia * Cleft palate (rare in BWS) * Cardiomyopathy (rare in BWS) * Positive family history (≥1 family m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest cavity, hindering proper lung formation. CDH is a life-threatening pathology in infants and a major cause of death due to two complications: pulmonary hypoplasia and pulmonary hypertension. Experts disagree on the relative importance of these two conditions, with some focusing on hypoplasia, others on hypertension. Newborns with CDH often have severe respiratory distress which can be life-threatening unless treated appropriately. Classification Bochdalek hernia The Bochdalek hernia, also known as a postero-lateral diaphragmatic hernia, is the most common manifestation of CDH, accounting for more than 95% of cases. In this instance the diaphragm abnormality is character ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Visceromegaly
Organomegaly is the abnormal enlargement of organs. For example, cardiomegaly is enlargement of the heart. ''Visceromegaly'' is the enlargement of abdominal organs. Examples of visceromegaly are enlarged liver (hepatomegaly), spleen (splenomegaly Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ) of the human abdomen. Splenomegaly is one of the four cardinal signs of ''hypersplenism'' which include: some reduction in number of circulating ...), stomach, kidneys, and pancreas. Definitions for various organs Values refer to adults unless otherwise specified. References {{Digestive system and abdomen symptoms and signs Medical signs Symptoms and signs: Digestive system and abdomen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hydrops Fetalis
Hydrops foetalis or hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments. By comparison, hydrops allantois or hydrops amnion is an accumulation of excessive fluid in the allantoic or amniotic space, respectively. Signs and symptoms Locations can include the subcutaneous tissue on the scalp, the pleura (pleural effusion), the pericardium (pericardial effusion) and the abdomen (ascites). Edema is usually seen in the fetal subcutaneous tissue, sometimes leading to spontaneous abortion. It is a prenatal form of heart failure, in which the heart is unable to satisfy demand (in most cases abnormally high) for blood flow. Causes Hydrops fetalis usually stems from fetal anemia, when the heart needs to pump a much greater volume of blood to deliver the same amount of oxygen. This anemia can have either an immune or non-immune cause. Non-immune hydrops can also be unrelated to anemia, for example if a feta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Hygroma
A cystic hygroma is an abnormal growth that usually appears on a baby's neck or head. It consists of one or more cysts and tends to grow larger over time. The disorder usually develops while the fetus is still in the uterus, but can also appear after birth. Also known as cystic lymphangioma and macrocystic lymphatic malformation, the growth is often a congenital lymphatic lesion of many small cavities (multiloculated) that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits. The malformation contains large cyst-like cavities containing lymph, a watery fluid that circulates throughout the lymphatic system. Microscopically, cystic hygroma consists of multiple locules filled with lymph. Deep locules are quite big, but they decrease in size towards the surface. Cystic hygromas are benign, but can be disfiguring. It is a condition which usually affects children; very rarely it can be present in adulthood. Currently, the medical field p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polyhydramnios
Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly. The opposite to polyhydramnios is oligohydramnios, not enough amniotic fluid. Presentation Associated conditions Fetuses with polyhydramnios are at risk for a number of other problems including cord prolapse, placental abruption, premature birth and perinatal death. At delivery the baby should be checked for congenital abnormalities. Causes In most cases, the exact cause cannot be identified. A single case may have one or more causes, including intrauterine infection (TORCH), rh-isoimmunisation, or chorioangioma of the placenta. In a multiple gestation pregna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fundal Height
Fundal height, or McDonald's rule, is a measure of the size of the uterus used to assess fetal growth and development during pregnancy. It is measured from the top of the mother's uterus to the top of the mother's pubic symphysis. Fundal height, when expressed in centimeters, roughly corresponds to gestational age in weeks between 16 and 36 weeks for a vertex fetus. When a tape measure is unavailable, finger widths are used to estimate centimeter (week) distances from a corresponding anatomical landmark. However, landmark distances from the pubic symphysis are highly variable depending on body type. In clinical practice, recording the actual fundal height measurement from the palpable top of the uterus to the superior edge of the pubic symphysis is standard practice beginning around 20 weeks gestation. Most caregivers will record their patient's fundal height on every prenatal visit. Measuring the fundal height can be an indicator of proper fetal growth and amniotic fluid developm ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GPC4
Glypican-4 is a protein that in humans is encoded by the ''GPC4'' gene. Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. See also * Glypican Glypicans constitute one of the two major families of heparan sulfate proteoglycans, with the other major family being syndecans. Six glypicans have been identified in mammals, and are referred to as GPC1 through GPC6. In ''Drosophila'' two glypic ... References Further reading * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Sim ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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