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Congenital disorders

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Hermaphrodite

In biology, a hermaphrodite is an organism that has complete or partial reproductive organs and produces gametes normally associated with both male and female sexes. Many taxonomic groups of animals do not have separate sexes. In these groups, hermaphroditism is a normal condition, enabling a form of sexual reproduction in which either partner can act as the "female" or "male". For example, the great majority of tunicates, pulmonate snails, opisthobranch snails and slugs are hermaphrodites. Hermaphroditism is also found in some fish species and to a lesser degree in other vertebrates. Most plants are also hermaphrodites.

 
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Triple X syndrome

Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female. Those affected are often taller than average. Usually there are no other physical differences and normal fertility. Occasionally there are learning difficulties, decreased muscle tone, seizures, or kidney problems.

 
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Fetal alcohol spectrum disorder

Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. Problems may include an abnormal appearance, short height, low body weight, small head size, poor coordination, low intelligence, behavior problems, and problems with hearing or seeing. Those affected are more likely to have trouble in school, legal problems, participate in high-risk behaviors, and have trouble with alcohol or other drugs. The most severe form of the condition is known as fetal alcohol syndrome (FAS). Other types include partial fetal alcohol syndrome (pFAS), alcohol-related neurodevelopmental disorder (ARND) and alcohol-related birth defects (ARBD). Some accept only FAS as a diagnosis, seeing the evidence as inconclusive with respect to other types.

 
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Fragile X syndrome

Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual disability. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common and seizures occur in about 10%. Males are usually more affected than females.

 
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Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a type of heart defect present at birth. Symptoms include episodes of bluish color to the skin. When affected babies cry or have a bowel movement, they may develop a "tet spell" where they turn very blue, have difficulty breathing, become limp, and occasionally lose consciousness. Other symptoms may include a heart murmur, finger clubbing, and easy tiring upon breastfeeding.

 
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Poland syndrome

Poland syndrome, named after British surgeon Alfred Poland, is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis) on one side of the body, and usually also webbing of the fingers of the hand on the same side. In most affected individuals, the missing part is the large section of the muscle that normally attaches to the upper arm on one side and the breastbone (sternum) on the other. Other abnormalities may occur on the affected side of the torso. In some cases, additional muscles in the chest wall, side, and shoulder are missing or underdeveloped.

 
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Cleft lip and cleft palate

Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP). A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate is when the roof of the mouth contains an opening into the nose. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders.

 
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Gynecomastia

Gynecomastia is an endocrine system disorder in which a noncancerous increase in the size of male breast tissue occurs. Psychological distress may occur.

 
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Neurofibromatosis

Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2 there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. The tumors are generally non-cancerous.

 
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Polydactyly

Polydactyly or polydactylism, also known as hyperdactyly, is a congenital physical anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly.

 
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Dysplasia

Dysplasia is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation.

 
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Patent ductus arteriosus

Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after birth.

 
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Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is an intersex condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in genetic males. Clinical phenotypes in these individuals range from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome.

 
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Cryptorchidism

Cryptorchidism is the absence of one or both testes from the scrotum. The word is from the Greek κρυπτός, kryptos, meaning hidden ὄρχις, orchis, meaning testicle. It is the most common birth defect of the male genital. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life, making the true incidence of cryptorchidism around 1% overall. Cryptorchidism may develop after infancy, sometimes as late as young adulthood, but that is exceptional.

 
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Hypospadias

Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting about one of every 250 males at birth. In roughly 90% of cases, the opening (meatus) is on or near the head of the penis (glans), referred to as distal hypospadias, while the remainder have proximal hypospadias with a meatus near or within the scrotum. Shiny tissue seen extending from the meatus to the tip of the glans, which would have made the urinary channel, is referred to as the urethral plate.