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Aglossia Adactylia
Hanhart syndrome is a broadly classified medical condition consisting of congenital disorders that cause an undeveloped tongue and malformed extremities and fingers. There exist five types of Hanhart syndrome, with the severity and nature of the condition ranging widely on a case-by-case basis. Hanhart syndrome is classified as a rare disease, with approximately 30 known cases having been reported between 1932 and 1991. Early hypotheses believed that the disorder was caused by genetic conditions, with a more recent hypothesis demonstrating that the disorder may be caused by hemorrhagic lesions during prenatal development. The causal mechanism behind this vascular disruption is still unknown. Discovery and etymology Hanhart syndrome was first described in 1932 by Ernst Hanhart. The name "Hanhart syndrome" was not used until 1950 when Hanhart described three patients who were born with limb defects and missing tongues. In 1971, the syndrome was more broadly classified as ''syndro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mobius Syndrome
Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial nerve paralysis, facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions. Limb and chest wall abnormalities sometimes occur with the syndrome. People with Möbius syndrome have normal intelligence, although their lack of facial expression is sometimes incorrectly taken to be due to dullness or unfriendliness. It is named for Paul Julius Möbius, a German neurologist who first described the syndrome in 1888. In 1994, the "Moebius Syndrome Foundation" was founded, and later that year the first "Moebius Syndrome Foundation Conference" was held in Los Angeles. Signs and symptoms People with Möbius syndrome are born with facial paralysis and the inability to move their eyes laterally. Often, their upper lip is retracted due to muscl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Telecanthus
Telecanthus, or dystopia canthorum, refers to increased distance between the inner corners of the eyelids (medial canthi), while the inter-pupillary distance is normal. This is in contrast to hypertelorism, in which the distance between the whole eyes is increased. Telecanthus and hypertelorism are each associated with multiple congenital disorders. The distance between the inner corners of the Eyelid, eyelids is called the intercanthal distance. In most people, the intercanthal distance is equal to the width of each eye (the distance between the inner and outer corners of each eye). The average interpupillary distance is 60–62 millimeters (mm), which corresponds to an intercanthal distance of approximately 30–31 mm. ''Traumatic telecanthus'' refers to telecanthus resulting from traumatic injury to the nasal-Orbit (anatomy), orbital-Ethmoid bone, ethmoid (NOE) complex. The diagnosis of traumatic telecanthus requires a measurement in excess of those normative values. The path ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infections, can a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Supernumerary Nipple
A supernumerary nipple is an additional instance of nipple occurring in mammals, including humans and monkeys. They are often mistaken for moles. Studies variously report the prevalence of supernumerary nipples as approximately 1 in 18 and 1 in 40.Supernumerary nipples: prevalence, size, sex and side predilection – a prospective clinical study H. Schmidt, European Journal of Pediatrics volume 157, pages 821–823 (1998).Occurrence of Supernumerary Nipples in Newborns Francis Mimouni, MD; Paul Merlob, MD; Salomon H. Reisner, MB, ChB, Am J ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Splenogonadal Fusion
Splenogonadal fusion is a rare congenital malformation that results from an abnormal connection between the primitive spleen and gonad during gestation. A portion of the splenic tissue then descends with the gonad. Splenogonadal fusion has been classified into two types: continuous, where there remains a connection between the main spleen and gonad; and discontinuous, where ectopic splenic tissue is attached to the gonad, but there is no connection to the orthotopic spleen. Patients can also have an accessory spleen. Patients with continuous splenogonadal fusion frequently have additional congenital abnormalities including limb defects, micrognathia, skull anomalies, Spina bifida, cardiac defects, anorectal abnormalities, and most commonly cryptorchidism. Terminal limb defects have been documented in at least 25 cases which makes up a separate diagnosis of splenogonadal fusion limb defect (SGFLD) syndrome. The anomaly was first described in 1883 by Bostroem. Since then more ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonad
A gonad, sex gland, or reproductive gland is a Heterocrine gland, mixed gland and sex organ that produces the gametes and sex hormones of an organism. Female reproductive cells are egg cells, and male reproductive cells are sperm. The male gonad, the testicle, produces sperm in the form of Spermatozoon, spermatozoa. The female gonad, the ovary, produces egg cells. Both of these gametes are haploid cells. Some hermaphroditic animals (and some humanssee Ovotesticular syndrome) have a type of gonad called an ovotestis. Evolution It is hard to find a common origin for gonads, but gonads most likely evolved independently several times. Regulation The gonads are controlled by luteinizing hormone (LH) and follicle-stimulating hormone (FSH), produced and secreted by gonadotropic cell, gonadotropes or gonadotrophins in the anterior pituitary gland. This secretion is regulated by gonadotropin-releasing hormone (GnRH) produced in the hypothalamus. Development The gonads develop f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spleen
The spleen (, from Ancient Greek '' σπλήν'', splḗn) is an organ (biology), organ found in almost all vertebrates. Similar in structure to a large lymph node, it acts primarily as a blood filter. The spleen plays important roles in regard to red blood cells (erythrocytes) and the immune system. It removes old red blood cells and holds a reserve of blood, which can be valuable in case of Shock (circulatory), hemorrhagic shock, and also Human iron metabolism, recycles iron. As a part of the mononuclear phagocyte system, it metabolizes hemoglobin removed from senescent red blood cells. The globin portion of hemoglobin is degraded to its constitutive amino acids, and the heme portion is metabolized to bilirubin, which is removed in the liver. The spleen houses antibody-producing lymphocytes in its white pulp and monocytes which remove antibody-coated bacteria and antibody-coated blood cells by way of blood and lymph node circulation. These monocytes, upon moving to injured ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastroschisis
Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a hole next to the belly button. The size of the hole is variable, and other organs including the stomach and liver may also occur outside the baby's body. Complications may include feeding problems, prematurity, intestinal atresia, and intrauterine growth restriction. The cause is typically unknown. Rates are higher in babies born to mothers who smoke, drink alcohol, or are younger than 20 years old. Ultrasounds during pregnancy may make the diagnosis. Otherwise, diagnosis occurs at birth. It differs from omphalocele in that there is no covering membrane over the intestines. Treatment involves surgery. This typically occurs shortly after birth. In those with large defects, the exposed organs may be covered with a special material and slowly moved back into the abdomen. This condition affects about 4 per 10,000 newborns. Rates of the condition appear to be increasing. Sig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aglossia
Aglossia (aglossia congenita) is a congenital defect resulting in a partial development or complete absence of a tongue. The first known case was reported in the early 18th century by a member of the prominent De Jussieu family in France France, officially the French Republic, is a country located primarily in Western Europe. Overseas France, Its overseas regions and territories include French Guiana in South America, Saint Pierre and Miquelon in the Atlantic Ocean#North Atlan ... and cases to this day remain rare. References External links Experience: I was born without a tongue Kelly Rogers, The Guardian, 1 December 2017. Congenital disorders of digestive system Congenital oral disorders Tongue disorders {{genetic-disorder-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adactyly
In biology, dactyly is the arrangement of digits (fingers and toes) on the hands, feet, or sometimes wings of a tetrapod animal. The term is derived from the Greek word () meaning "finger." Sometimes the suffix "-dactylia" is used. The derived adjectives end with "-dactyl" or "-dactylous." As a normal feature Pentadactyly Pentadactyly (from Greek "five") is the condition of having five digits on each limb. It is traditionally believed that all living tetrapods are descended from an ancestor with a pentadactyl limb, although many species have now lost or transformed some or all of their digits by the process of evolution. However, this viewpoint was challenged by Stephen Jay Gould in his 1991 essay "Eight (or Fewer) Little Piggies," where he pointed out polydactyly in early tetrapods and described the specializations of digit reduction. Despite the individual variations listed below, the relationship is to the original five-digit model. In reptiles, the limbs are pentadacty ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oligodactyly
Oligodactyly () is the presence of fewer than five digits (fingers or toes) on a hand or foot.Medical terms Dictionary . Accessed February 16, 2010 It is quite often incorrectly called ''hypodactyly''; the Greek prefixes hypo- and hyper- are used for continuous scales (e.g. in and ), as opposed to |
Phalanx Bone
The phalanges (: phalanx ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones. Structure The phalanges are the bones that make up the fingers of the hand and the toes of the foot. There are 56 phalanges in the human body, with fourteen on each hand and foot. Three phalanges are present on each finger and toe, with the exception of the thumb and big toe, which possess only two. The middle and far phalanges of the fifth toes are often fused together (symphalangism). The phalanges of the hand are commonly known as the finger bones. The phalanges of the foot differ from the hand in that they are often shorter and more compressed, especially in the proximal phalanges, those closest to the torso. A phalanx is named according to whether it is proximal, middle, or distal and its associated finger or toe. The proximal phalange ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
