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Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Hirschsprung's disease is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Symptoms usually become apparent in the first two months of life. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.
Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome.
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such.
An imperforate hymen is a congenital disorder where a hymen without an opening completely obstructs the vagina. It is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It is treated by surgical incision of the hymen.
Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can either be complete vaginal hypoplasia, or a vaginal obstruction, often caused by an imperforate hymen or, less commonly, a transverse vaginal septum. It results in uterovaginal outflow tract obstruction. This condition does not usually occur by itself within an individual, but coupled with other developmental disorders within the female. The disorders that are usually coupled with a female who has vaginal atresia are Rokitansky-Mayer- Küster-Hauser syndrome, Bardet-Biedl syndrome, or Fraser syndrome. One out of every 5,000 women have this abnormality.
Empty sella syndrome is the condition when the pituitary gland shrinks or becomes flattened, filling the sella turcica with cerebrospinal fluid instead of the normal pituitary. It can be discovered as part of the diagnostic workup of pituitary disorders, or as an incidental finding when imaging the brain.
Laurence–Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities.
Alström syndrome (AS), also called Alström–Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadism and hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia. Developmental delay is seen in almost half of people with Alström syndrome.
Hematocolpos is a medical condition in which the vagina is pooled with menstrual blood due to multiple factors leading to the blockage of menstrual blood flow. The medical definition of hematocolpos is 'an accumulation of blood within the vagina'. It is often caused by the combination of menstruation with an imperforate hymen. It is sometimes seen in Robinow syndrome, uterus didelphys, or other vaginal anomalies.
Meckel-Gruber syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. Meckel–Gruber syndrome is named for Johann Meckel and Georg Gruber.
A vaginal disease is a pathological condition that affects part or all of the vagina.
Bladder outlet obstruction occurs when urine is unable to flow from the kidneys through the ureters and out of the bladder through the urethra. Decreased flow of urine leads to swelling of the urinary tract, called hydronephrosis. This process of decreased flow of urine through the urinary tract can begin as early as during intrauterine life and it prevents normal development of fetal kidneys and fetal urine. Low levels of fetal urine leads to low amniotic fluid levels and incomplete lung maturation. Older children and adults can also experience bladder outlet obstruction; however, this process is usually reversible and isn't associated with as many poor outcomes as in infants with congenital bladder outlet obstruction.
McKusick–Kaufman syndrome is a genetic condition associated with MKKS.
Cervical agenesis is a congenital disorder of the female genital system that manifests itself in the absence of a cervix, the connecting structure between the uterus and vagina. Milder forms of the condition, in which the cervix is present but deformed and nonfunctional, are known as cervical atresia or cervical dysgenesis.
Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability, obesity, and growth defects.
WNT4 deficiency is a rare genetic disorder that affects females and it results in the underdevelopment and sometimes absence of the uterus and vagina. WNT4 deficiency is caused by mutations of the WNT4 gene. Abnormally high androgen levels are found in the blood and can initiate and promote the development of male sex characteristics. This is seen as male pattern of hair growth on the chest and face. Those with this genetic defect develop breasts but do not have their period. Mayer–Rokitansky–Küster–Hauser syndrome is a related but distinct syndrome. Some women who have an initial diagnosis of MRKH have later been found to have WNT4 deficiency. Most women with MRKH syndrome do not have genetic mutations of the WNT4 gene. The failure to begin the menstrual cycle may be the initial clinical sign of WNT4 deficiency. WNT4 deficiency can cause significant psychological challenges and counseling is recommended.
Vaginal anomalies are abnormal structures that are formed during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina. When present, they are often found with uterine, skeletal and urinary abnormalities. This is because these structures, like the vagina, are most susceptible to disruption during crucial times of organ-genesis. Many of these defects are classified under the broader term Müllerian duct anomalies. Müllerian duct anomalies are caused by a disturbance during the embryonic time of genitourinary development. The other isolated incidents of vaginal anomalies can occur with no apparent cause. Oftentimes vaginal anomalies are part of a cluster of defects or syndromes. In addition, inheritance can play a part as can prenatal exposure to some teratogens. Many vaginal anomalies are not detected at birth because the external genitalia appear to be normal. Other organs of the reproductive system may not be affected by an abnormality of the vagina. The uterus, fallopian tubes and ovaries can be functional despite the presence of a defect of the vagina and external genitalia. A vaginal anomaly may not affect fertility. Though it depends on the extent of the vaginal defect, it is possible for conception to occur. In instances where a functional ovary exists, IVF may be successful. Functioning ovaries in a woman with a vaginal defect allows the implantation of a fertilized ovum into the uterus of an unaffected gestational carrier. A successful conception and can occur. Vaginal length varies from 6.5 to 12.5 cm. Since this is slightly shorter than older descriptions, it may impact the diagnosis of women with vaginal agenesis or hypoplasia who may unnecessarily be encouraged to undergo treatment to increase the size of the vagina. Vaginal anomalies may cause difficulties in urination, conception, pregnancy, impair sex. Psychosocial effects can also exist.
Vaginal cysts are uncommon benign cysts that develop in the vaginal wall. The type of epithelial tissue lining a cyst is used to classify these growths. They can be congenital. They can present in childhood and adulthood. The most common type is the squamous inclusion cyst. It develops within vaginal tissue present at the site of an episiotomy or other vaginal surgical sites. In most instances they do not cause symptoms and present with few or no complications. A vaginal cyst can develop on the surface of the vaginal epithelium or in deeper layers. Often, they are found by the women herself and as an incidental finding during a routine pelvic examination. Vaginal cysts can mimic other structures that protrude from the vagina such as a rectocele and cystocele. Some cysts can be distinguished visually but most will need a biopsy to determine the type. Vaginal cysts can vary in size and can grow as large as 7 cm. Other cysts can be present on the vaginal wall though mostly these can be differentiated. Vaginal cysts can often be palpated (felt) by a clinician. Vaginal cysts are one type of vaginal mass, others include cancers and tumors. The prevalence of vaginal cysts is uncertain since many go unreported but it is estimated that 1 out of 200 women have a vaginal cyst. Vaginal cysts may initially be discovered during pregnancy and childbirth. These are then treated to provide an unobstructed delivery of the infant. Growths that originate from the urethra and other tissue can present as cysts of the vagina.
References
- ↑ "Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-12-23.
- 1 2 Voos, Kristin; Weiner, Julie; Costalez, Jessica; Murthy, Vydehi (2013). "Two Neonates with Congenital Hydrocolpos". Case Reports in Pediatrics. 2013: 692504. doi:10.1155/2013/692504. PMC 3728535 . PMID 23956910.
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