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Acrocephalosyndactyly
Acrocephalosyndactyly An inherited disorder causing abnormalities of the skull and face and the hands and feet. In acrocephalosyndactyly there is closure too-early of some of the sutures of the skull (craniosynostosis). This results in an abnormally shaped head, which is unusually tall and peaked, and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery is often useful to correct the abnormalities of the skull, face, hands and feet. Acrocephalosyndactyly is an autosomal dominant trait with boys and girls affected equally. A affected parent can have transmit the gene for the disorder or both parents can be normal with the disorder appearing in the child due to a new mutation. The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are dominant traits.
RELATED TERMS--------------------------------------
Skull
The bony framework of the head.
Feet
The plural of foot, both an anatomic structure and a unit of measure. As an anatomic structure, the foot is the end of the leg on which a person normally stands and walks. The foot is a particularly complex structure made up of dozens of bones that work together with muscles and tendons to execute precise movements. The bones of the foot include the 10 metatarsal bones and the 28 phalanges (toe bones).
Acrocephalosyndactyly
An inherited disorder causing abnormalities of the skull and face and the hands and feet. In acrocephalosyndactyly there is closure too-early of some of the sutures of the skull (craniosynostosis). This results in an abnormally shaped head, which is unusually tall and peaked, and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery is often useful to correct the abnormalities of the skull, face, hands and feet. Acrocephalosyndactyly is an autosomal dominant trait with boys and girls affected equally. A affected parent can have transmit the gene for the disorder or both parents can be normal with the disorder appearing in the child due to a new mutation. The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are dominant traits.
Fusion
The union and integration of the instincts and drives so that they complement each other and help the organism to deal effectively with both internal needs and external demands.
Surgery
Treating diseases or other medical conditions by operating on a patient to remove or repair parts of the body.
Autosomal
"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "
Dominant
A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes). A dominant trait is opposed to a recessive trait which is expressed only when two copies of the gene are present. (In genetic terms, a recessive trait is one that is phenotypically expressed only in homozygotes).
Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.
Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.
Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.
Fibroblast
A connective tissue cell.
Receptor
A molecule that recognizes a unique hormone. Once that hormone is bound to the receptor, the information carried by the hormone can now exert its biological action.
Chromosome
A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.
FGFR2
A mutation (change) in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10 causes the best-known type of acrocephalosyndactyly, namely Apert syndrome which is characterized by abnormalities of the skull and face and the hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from front-to-back) and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery is often useful with the skull, face, hands and feet. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems).
Genetic
Hereditary. Having to do with the genes.
Foot
The distal portion of the leg, upon which an individual stands and walks. It consists, in man, of the tarsus, metatarsus, and phalanges and the tissues encompassing them.
SIMILAR TERMS--------------------------------------
Acrocentric chromosome
"A chromosome (one of the microscopically visible carriers of the genetic material DNA) with its centromere (the ""waist"" of the chromosome) located quite near one end of the chromosome. The ""acro-"" in acrocentric comes from the Greek ""akron"" meaning ""the end."" Humans have 5 pairs of acrocentric chromosomes. Down syndrome (trisomy 21) is due to an extra acrocentric chromosome, namely chromosome 21.A chromosome with a centromere near one end. Down syndrome (trisomy 21) is due to an extra acrocentric chromosome."
Acrochordon
"A small tag of skin that may have a stalk (a peduncle). An acrochordon may appear on skin anywhere although the favorite locales are the eyelids, neck, armpits (axillae), upper chest, and groin. Invariably benign, this tiny tumor of the skin usually causes no symptoms unless repeatedly irritated as, for example, by the collar. Treatment may be done by freezing with liquid nitrogen or by cutting off with a scalpel or scissors if the acrochordon is irritating or cosmetically unwanted. The term ""acrochordon"" is from the Greek ""acro-"" (which means top, summit, extreme, or refers to an arm or leg) + ""chorde"", string. Medically, an acrochordon is also called a cutaneous papilloma. It is far better known as a skin tag."
Acrocyanosis
Cyanotic changes occurring at the extremities (blue discolouration on exposure to cold).
Acrodermatitis
Inflammation of the skin of the extremities, particularly of the paws or feet.
Acrodermatitis enteropathica
An historic model for the therapy of genetic disease. In an era (the 1950s) when inherited disorders were usually seen as hopeless, this progressive hereditary (autosomal recessive) disease of children was found treatable. Acrodermatitis enteropathica is characterized by the simultaneous occurrence of skin inflammation (dermatitis) and diarrhea. The skin on the cheeks, elbows and knees and tissue about the mouth and anus are inflamed. There is also balding of the scalp, eyebrows and lashes, delayed wound healing and recurrent bacterial and fungal infections due to immune deficiency. The key laboratory finding in acrodermatitis enteropathica is an abnormally low blood zinc level, reflecting impaired zinc uptake. Treatment with zinc by mouth is curative.
Acrodynia
Pain in the extremities (the hands and feet).
Acromegaly
A condition that occurs when the pituitary gland produces too much growth hormone. In adults, this can cause overgrowth of bones that occurs in smaller bones, such as those in the jaw, hands and feet. In children or teenagers, this can cause giantism.
Acromioclavicular joint
"The acromioclavicular (AC) joint is located between the acromion (a projection of the scapula that forms the point of the shoulder) and the clavicle (the collar bone). This is a gliding type of joint. The ligaments that serve to support and strengthen this joint are called the capsular; superior and inferior acromioclavicular; articular disk; and coracoclavicular (trapezoid and conoid) ligaments."
Acromion
"The projection of the scapula (the shoulder blade) that forms the point of the shoulder. The acromion is part of the scapula. It protrudes laterally (away from the midline) and is triangular in shape. The top of the shoulder is acromial. The word ""acromion"" comes from the Greek ""akron"", peak + ""omos"", shoulder = the peak of the shoulder."
Acrophobia
"An abnormally excessive and persistent fear of heights. Sufferers experience severe anxiety even though they usually realize that, as a rule, heights pose no real threat to them. Derived from the Greek ""acron"", height + ""phobos"", fear."
Acrosclerosis
Skin changes at the extremities typical of scleroderma.
Acrotomophilia
1. a paraphilia of the stigmatic/eligibilic type in which sexuoerotic arousal and facilitation or attainment of orgasm are responsive to, and contingent on a partner who is an amputee [from Greek, akron, extremity + tomo, a cutting + -philia; a liking of an amputated extremity]. An acrotomophile is erotically excited by the stump(s) of the amputee partner. 2. the condition of being dependent on the appearance or fantasy of one's partner as an amputee in order to obtain erotic arousal and facilitate or achieve orgasm. The reciprocal paraphilic condition, namely self-amputation, is apotemnophilia.
PREVIOUS AND NEXT TERMS--------------------------------------
Acquired immunodeficiency disease
Acquired immunodeficiency disease: Disease caused by infection with the human immunodeficiency virus (HIV).
Acquired immunodeficiency syndrome
AIDS.
Acquired mutation
A mutation (a genetic change) acquired by a somatic cell after conception. Acquired mutations occur in somatic cells, not germ cells, and so cannot be transmitted to the children. However, acquired mutations are transmitted to all cells descended from the mutant cell, giving rise to a clone (colony) of cells marked by the mutation. Some acquired mutations are involved in the development of cancer. Also known as an acquired genetic mutation, somatic mutation, or somatic cell mutation.
Acral-lentiginous melanoma
See: Melanoma, acral-lentiginous.
Acrocentric chromosome
"A chromosome (one of the microscopically visible carriers of the genetic material DNA) with its centromere (the ""waist"" of the chromosome) located quite near one end of the chromosome. The ""acro-"" in acrocentric comes from the Greek ""akron"" meaning ""the end."" Humans have 5 pairs of acrocentric chromosomes. Down syndrome (trisomy 21) is due to an extra acrocentric chromosome, namely chromosome 21.A chromosome with a centromere near one end. Down syndrome (trisomy 21) is due to an extra acrocentric chromosome."
Acrocephalosyndactyly
Acrochordon
"A small tag of skin that may have a stalk (a peduncle). An acrochordon may appear on skin anywhere although the favorite locales are the eyelids, neck, armpits (axillae), upper chest, and groin. Invariably benign, this tiny tumor of the skin usually causes no symptoms unless repeatedly irritated as, for example, by the collar. Treatment may be done by freezing with liquid nitrogen or by cutting off with a scalpel or scissors if the acrochordon is irritating or cosmetically unwanted. The term ""acrochordon"" is from the Greek ""acro-"" (which means top, summit, extreme, or refers to an arm or leg) + ""chorde"", string. Medically, an acrochordon is also called a cutaneous papilloma. It is far better known as a skin tag."
Acrodermatitis enteropathica
An historic model for the therapy of genetic disease. In an era (the 1950s) when inherited disorders were usually seen as hopeless, this progressive hereditary (autosomal recessive) disease of children was found treatable. Acrodermatitis enteropathica is characterized by the simultaneous occurrence of skin inflammation (dermatitis) and diarrhea. The skin on the cheeks, elbows and knees and tissue about the mouth and anus are inflamed. There is also balding of the scalp, eyebrows and lashes, delayed wound healing and recurrent bacterial and fungal infections due to immune deficiency. The key laboratory finding in acrodermatitis enteropathica is an abnormally low blood zinc level, reflecting impaired zinc uptake. Treatment with zinc by mouth is curative.
Acrodynia
Pain in the extremities (the hands and feet).
Acromioclavicular joint
"The acromioclavicular (AC) joint is located between the acromion (a projection of the scapula that forms the point of the shoulder) and the clavicle (the collar bone). This is a gliding type of joint. The ligaments that serve to support and strengthen this joint are called the capsular; superior and inferior acromioclavicular; articular disk; and coracoclavicular (trapezoid and conoid) ligaments."
Acromion
"The projection of the scapula (the shoulder blade) that forms the point of the shoulder. The acromion is part of the scapula. It protrudes laterally (away from the midline) and is triangular in shape. The top of the shoulder is acromial. The word ""acromion"" comes from the Greek ""akron"", peak + ""omos"", shoulder = the peak of the shoulder."
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