Terms in this set (53)
Also called Down Syndrome, occurs due to nondisjunction of the 21st chromosome, characterized by a large, fissured tongue, heart abnormalities, slanted eyes, hypodontia, and a high risk of gingival or periodontal disease
Caused by nondisjunction of the 13th chromosome, characterized by bilateral cleft palate & lip, severe mental handicap, supernumerary digits on hands & feet- 75% of infants die within the 1st seven months
caused by nondisjunction of the X chromosome, female, webbing of the neck, edema of hands & feet, & lack of Barr bodies
caused by nondisjunction of the X chromosome, occurs in males but usually cannot be detected until puberty, 50% develop breasts (gynecomastia) and have a very low testosterone level- teeth also exhibit taurodontism
an autosomal recessive disorder characterized by marked periodontal disease & palmoplantar keratosis of the hands & feet- patients usually lose all primary & permanent teeth by age 14
an autosomal dominant disorder that mostly affects females characterized by painless bilateral facial swelling more commonly affecting the mandible- radiographically appears as a "soap bubble" appearance
Ellis Van Creveld Syndrome
an autosomal recessive disorders more often seen in dwarfism characterized by supernumerary digts on hands & feet, fusion of the anterior portion of the gingiva to the upper lip, & teeth that have a conical shape
an autosomal dominant disorder characterized by bone defects involving the clavicle & skull. The clavicle is either absent or is underdeveloped. These patients have the ability to touch their shoulders together. They also have a large head with widely spaced eyes (hypertelorism) due to delayed closure of the sutures of the skull
an autosomal dominant disorder characterized by multiple odontomas , hypercementosis, intestinal polyps, and the presence of osteomas in the mandible & or maxilla. These patients also develop an overgrowth of colon polyps that may become malignant
Treacher Collins syndrome
an autosomal dominant disorder characterized by a narrow face due to hypoplasia of the zygomatic bone, ear deformities & deafness, a notch in the lateral aspects of the eye (coloboma), and hypoplasia of the cornoid process & mandibular condyle. Patients may also exhibit cleft palate.
Nevoid Basal Cell Carcinoma syndrome
also called Gorlin syndrome, an autosomal dominant disorder characterized by odontogenic keratocysts, prognathism, bifurcation of ribs- these patients typically exhibit up to several hundred cases of basal cell carcinoma over their lifetime that occur in both sun-exposed areas & non-sun-exposed areas
the most common hereditary bone disorder characterized by fractured bones at birth, bowing of legs, blue sclera of the eyes, dentinogenesis imperfecta, hypermobility of the joints - four types: type II & III usually die in the womb
an autosomal dominant disorder characterized by multiple melanotic macular pigmentation of the skin & mucosa- pigmentation on the lips & gingiva occur in 98% of cases, these patients also develop intestinal polyps that have an increased propensity for malignant transformation to adenocarcinoma
White sponge nevus
an autosomal dominant disorder characterized by a thick layer of keratin on the buccal mucosa, but can also occur on the labial mucosa, ventral tongue, & floor of the mouth.
A group of 14 separate hereditary disorders in which enamel does not develop normally and cannot be contributed to any other systemic diseases
Hypoplastic amelogenesis imperfecta
tooth enamel that does not develop to a normal thickness, enamel is thin & may be pitted and rough, enamel may not be visible on x-rays
Hypocalcified amelogenesis imperfecta
enamel that appears normal at eruption but quickly stains, teeth will appear yellow to orange and very soft- frequently associated with an open bite
Hypomaturation amelogenesis imperfecta
enamel that does not mature and chips easily from the crown- may exhibit snow-capped amelogenesis imperfecta - teeth may also appear soft & porous & mottled or opaque
abnormal pulp formation and defective mineralization of dentin, can occur in osteogenesis imperfecta
an autosomal dominant disorder characterized by normal appearing crowns with malformed roots. They may also exhibit hypermobility & spontaneous abscesses or cysts. Due to weak root dentin, the teeth may fracture during extraction. The teeth usually lack pulp chambers also.
inherited disorder that affects the development of bones as well as cementum & PDL. Infants born with this exhibit short limbs, an abnormal shaped chest, soft cranial bone, a failure to gain weight, & a high level of calcium in the blood which may lead to recurrent bouts of vomiting & kidney problems
the mildest form of hypophosphatasia that only affects the teeth- individuals will experience abnormal tooth development as well as premature tooth loss. The anterior deciduous incisors are more likely to be affected.
Multiple Hamartoma syndrome
Also called Cowden syndrome, this disorder is characterized by benign hamartomatous growths that may become malignant over time. These growths are called trichilemmomas, which are growths of the hair follicles, and can appear on the face & mouth including the oral cavity.
benign tumor like growth that is made up of normal mature cells but in an abnormal number or distribution
a development disorder characterized by replacement of normal bone by fibrous connective tissue. Radiographically it appears as a "ground glass" or "frosted glass" radiopacity.
group of skeletal defects that are caused by a deficiency in or a lack of osteoclast function leading to an increase in bone density. It can be further classified as infantile or adult
a group of syndromes that are characterized by premature closure of cranial sutures leading to abnormal head shapes
a type of craniosynostosis that is characterized by exophthalmos (bulging eyes), blindness, hearing loss, & frequent headaches. Intraorally, patients may exhibit a high arched palate, posterior crossbite, and prognathism
a type of craniosynostosis that is characterized by syndactyly (fusion of fingers & toes) & mental developmental delay
Van der Woude syndrome
disorder characterized by abnormal fusion of the palate & lips in utero, paramedian lip pits often develop on the lower lip, most patients are born with a cleft lip, cleft palate or both, mild cases present with a bifid uvula
Hypohidrotic ectodermal dysplasia
disorders characterized by hypodontia and incisors that have a tapered or conical shape, molars have microdontia, fingernails may be atrophic, & hair will be sparse & brittle. These patients also have reduced ability to sweat which can lead to dangerous hyperthermia
an autosomal recessive disorder that is caused by the lack of the enzyme catalyse which assists the body in the decomposition of hydrogen peroxide
Hereditary Gingival Enlargement
marked gingival enlargement that may overgrow the teeth and appear as pink, firm, fibrous tissue with little tendency to bleed. Patients will undergo numerous surgeries throughout life as the gingiva continues to grow back even after surgical removal
a collection of signs & symptoms that occur together & characterize a particular abnormality or condition
a permanent change in the DNA sequence that makes up a gene. This may occur before or after birth
a gene's visible observable characteristics
an individuals genetic compostition
the range of signs & symptoms that may occur in different people with the same genetic condition
the proportion of individuals carrying a particular variation of a gene or allele that also expresses an associated trait
individuals who have an inherited gene but do no show symptoms of the disorder
caused by a mutation on the X chromosome- males are most often affected
autosomal recessive disorders
disorders that require 2 copies of the disease allele in order for a person to be affected. Each sibling has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected.
autosomal dominant disorders
disorders that only require one copy of the disease allele in order for a person to be affected. Each sibling has a 50% chance of being affected.
the allele that was expressed
the allele that was not expressed
chromosomes that appear in both males & females and make up the first 22 pairs of chromosomes
23rd pair of chromosomes that differ between males(Y) & females (X)
occurs when a portion of the chromosome goes missing during cell division
occurs when two chromosomes exchange parts
occurs when the chromosome breaks and is reinserted in the wrong location
sequences of the DNA that determine specific traits or characteristics of a person
the precise part of a gene that determines specific color or shape
describes the number and appearance of chromosomes in the nucleus
YOU MIGHT ALSO LIKE...
Comprehensive USMLE Step 2/COMLEX Level 2 Guide
ORAL PATHOLOGY: lecture 2
Chapter 6: Genetics
OTHER SETS BY THIS CREATOR
Approach to Adolescents
Pediatric clinical decision making
THIS SET IS OFTEN IN FOLDERS WITH...
The Chromosome Theory of Inheritance