Cooks Syndrome
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Cooks Syndrome
Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers. In the feet, it is characterized by absence of toenails and absence/hypoplasia of the distal phalanges. In the second study of this disorder, it was found that the intermediate phalanges, proximal phalanges, and metacarpals were unaffected. The disorder was first described by Cooks ''et al.'' in 1985 after being discovered in two generations of one family. It was proposed that the inheritance of the disorder is autosomal dominant. A second family, this with three affected generations, confirmed that the inheritance of the disorder is autosomal dominant. Although several genetic disorders exist which can cause anonychia Anonychia is the absence of fingernails or toenails, an anomaly which may b ...
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Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.Definition: hypoplasia
Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia
Stedman's Medical Dictionary. lww.com
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Thumb
The thumb is the first digit of the hand, next to the index finger. When a person is standing in the medical anatomical position (where the palm is facing to the front), the thumb is the outermost digit. The Medical Latin English noun for thumb is ''pollex'' (compare ''hallux'' for big toe), and the corresponding adjective for thumb is ''pollical''. Definition Thumb and fingers The English word ''finger'' has two senses, even in the context of appendages of a single typical human hand: # Any of the five terminal members of the hand. # Any of the four terminal members of the hand, other than the thumb Linguistically, it appears that the original sense was the first of these two: (also rendered as ) was, in the inferred Proto-Indo-European language, a suffixed form of (or ), which has given rise to many Indo-European-family words (tens of them defined in English dictionaries) that involve, or stem from, concepts of fiveness. The thumb shares the following with each of the o ...
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Index Finger
The index finger (also referred to as forefinger, first finger, second finger, pointer finger, trigger finger, digitus secundus, digitus II, and many other terms) is the second digit of a human hand. It is located between the thumb and the middle finger. It is usually the most dextrous and sensitive digit of the hand, though not the longest. It is shorter than the middle finger, and may be shorter or longer than the ring finger (see digit ratio). Anatomy "Index finger" literally means "pointing finger", from the same Latin source as '' indicate;'' its anatomical names are "index finger" and "second digit". The index finger has three phalanges. It does not contain any muscles, but is controlled by muscles in the hand by attachments of tendons to the bones. Uses A lone index finger held vertically is often used to represent the number 1 (but finger counting differs across cultures), or when held up or moved side to side (finger-wagging), it can be an admonitory gesture. Wit ...
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Middle Finger
The middle finger, long finger, second finger, third finger, toll finger or tall man is the third digit of the human hand, located between the index finger and the ring finger. It is typically the longest digit. In anatomy, it is also called ''the third finger'', ''digitus medius'', ''digitus tertius'' or ''digitus III''. In Western countries, The finger, extending the middle finger (either by itself, or along with the index finger The index finger (also referred to as forefinger, first finger, second finger, pointer finger, trigger finger, digitus secundus, digitus II, and many other terms) is the second digit of a human hand. It is located between the thumb and the mid ... in the United Kingdom: see V sign) is an offensive and obscene gesture, widely recognized as a form of insult, due to its resemblance of an Erection, erect penis, It is known, colloquially, as "flipping the bird", "flipping (someone) off", or "giving (someone) the finger". The middle finger is ofte ...
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Anonychia
Anonychia is the absence of fingernails or toenails, an anomaly which may be the result of a congenital ectodermal defect, ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, lichen planus, epidermolysis bullosa, or severe exfoliative diseases.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Congenital form This is rare and is usually due to mutations in the R-spondin 4 ( RSPO4) gene which is located on the short arm of chromosome 20 Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the total DNA in cells. Chromosome 20 was fully sequenced i ... (20p13).Khan TN, Klar J, Nawaz S, Jameel M, Tariq M, Malik NA, Baig SM, Dahl N (2012) Novel missense mutation in the RSPO4 gene in congenital hyponychia and ev ...
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Ring Finger
The ring finger, third finger, fourth finger, leech finger, or annulary is the fourth digit of the human hand, located between the middle finger and the little finger. Sometimes the term ring finger only refers to the fourth digit of a left-hand, so named for its traditional association with wedding rings in many societies, although not all use this digit as the ring finger. Traditionally, a wedding ring was worn only by the bride or wife, but in recent times more men also wear a wedding ring. It is also the custom in some societies to wear an engagement ring on the ring finger. In anatomy, the ring finger is called ''digitus medicinalis'', ''the fourth digit'', ''digitus annularis'', ''digitus quartus'', or ''digitus IV''. In Latin, the word ''anulus'' means "ring", ''digitus'' means "digit", and ''quartus'' means "fourth". Etymology The origin of the selection of the fourth digit as the ring finger is not definitively known. According to László A. Magyar, the names of the ...
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Little Finger
The little finger, or pinkie, also known as the baby finger, fifth digit, or pinky finger, is the most ulnar and smallest digit of the human hand, and next to the ring finger. Etymology The word "pinkie" is derived from the Dutch word ''pink'', meaning "little finger". The earliest recorded use of the term "pinkie" is from Scotland in 1808. The term (sometimes spelled "pinky") is common in Scottish English and American English, and is also used extensively in other Commonwealth countries such as New Zealand, Canada, and Australia. Nerves and muscles The little finger is nearly impossible for most people to bend independently (without also bending the ring finger), due to the nerves for each digit being intertwined. There are also nine muscles that control the fifth digit: Three in the hypothenar eminence, two extrinsic flexors, two extrinsic extensors, and two more intrinsic muscles: * Hypothenar eminence: ** Opponens digiti minimi muscle ** Abductor minimi digiti muscle (a ...
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Distal Phalanges
The phalanges (singular: ''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 large 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 ...
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Intermediate Phalanges
The phalanges (singular: ''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 large 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 ...
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Proximal Phalanges
The phalanges (singular: ''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 large 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 ...
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Metacarpals
In human anatomy, the metacarpal bones or metacarpus form the intermediate part of the skeleton, skeletal hand located between the phalanges of the fingers and the carpal bones of the wrist, which forms the connection to the forearm. The metacarpal bones are analogous to the metatarsal bones in the foot. Structure The metacarpals form a transverse arch to which the rigid row of distal carpal bones are fixed. The peripheral metacarpals (those of the thumb and little finger) form the sides of the cup of the palmar gutter and as they are brought together they deepen this concavity. The index metacarpal is the most firmly fixed, while the thumb metacarpal articulates with the trapezium and acts independently from the others. The middle metacarpals are tightly united to the carpus by intrinsic interlocking bone elements at their bases. The ring metacarpal is somewhat more mobile while the fifth metacarpal is semi-independent.Tubiana ''et al'' 1998, p 11 Each metacarpal bone consists o ...
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Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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