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Developmental disorder

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the normal developmental process is disturbed; can be mild or result in miscarriage

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Hereditary disorder

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genetic abnormality is passed on from parent; can be mild or result in miscarriage

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Teratogens

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agent that causes developmental disorders, ex: alcohol, tobacco, drugs, and diseases

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Congenital abnormality (birth defects)

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abnormality seen at birth, can be a developmental or hereditary

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Agenesis

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complete or partial absence of an organ or body part

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Dysraphic abnormality

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defect caused by failure of tissues to fuse

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Involution failure

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body retains embryonic features that it should have outgrown

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Division failure

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failure to divide during fetal development

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Atresia

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failure to create an opening or hollow center

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Ectopia

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structures develop in the wrong location

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Dystopia

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structures do not move to their final position during development

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Developmental disorders

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most occur during the first 12 weeks of a pregnancy, can have multiple organ effects

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Fetal alcohol spectrum defects

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alcohol exposure in-utero, no specific amount is safe, not everyone reacts the same way

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FAS

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fetal alcohol syndrome; includes growth problems, facial features, and neurodevelopmental problems

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ARND

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alcohol-related neurodevelopmental disorder

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PFAS

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Partial fetal alcohol syndrome

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ARBD

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Alcohol-related birth defects

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FAE

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fetal alcohol effects, mild version of FAS with fewer abnormalities

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Epidemiology of Fetal Alcohol spectrum defects

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occurs in 1-2/1,000 births, 80% of cases fall under the PFAS and ARBD diagnoses

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Pathogenesis of Fetal Alcohol spectrum defects

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alcohol crosses the placenta, remains there longer than in mother's blood, stored in amniotic fluid

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Extraoral Characteristics of Fetal Alcohol spectrum defects

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small head, shorter in length, low birth weight, narrow eyes with epicanthal folds, short turned up nose, thin upper lip, absence of philtrum

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Neurodevelopmental problems of Fetal Alcohol spectrum defects

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mild-to-moderate mental retardation, ADHD, learning disabilities, language impairment, poor coordination, poor judgement, behavior problems, poor social skills, seizure disorders, eye disorders, hearing loss, congenital heart defects, increased risk for cancer

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Treatment of Fetal Alcohol spectrum defects

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damage to organs can be surgically corrected, behavioral/mental problems can use therapy (requires a lot of work)

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TORCH syndrom

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similar developmental abnormalities occur from one of several causes; toxoplasmosis, other infections such as syphilis TB or chicken pox, rubella, cytomegalovirus, herpesvirus

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Extraoral characteristics of TORCH syndrome

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premature birth, encephalitis, small head, hydrocephaly, mental deficiency, hearing loss and visual impairment, enlarged liver, anemia, thrombocytopenia, rash petechiae and bruising, congenital heart diseases, pulmonary problems

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Congenital syphilis (TORCH)

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hutchinson incisors (permanent incisors have a notch in the incisal edge), mulberry molars (occlusal surface looks like a cluster of berries)

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Perinatal herpes (TORCH)

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vesicular lesions on oral or perioral mucosa

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treatment of TORCH syndrome

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specific to the abnormality, prevention of further problems, hutchinson incisors - crown for esthetic purposes, mulberry molars - no tx

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TORCH dental connections

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prophylactic antibiotics for cardiac abnormalities, treatment modifications for syndrome, counsel pregnant patients about the need for vaccines dangers of litter boxrs and sexual contact with infected partner

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Chromosomes

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paired chromatin, stored in the nucleus of each cell in the body

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Chromatin

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tightly spiraled strand of DNA

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DNA

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contains genes in a spiral ladder formation

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Gene

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unit for hereditary characteristics, segment of DNA

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Somatic cells (from body tissues)

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diploid cells; contain 46 chromosomes (2 sex chromosomes)

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Gametes (reproductive cells: ovum and sperm)

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haploid cells; contain 23 chromosomes (1 sex chromosomes)

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Homozygous for a gene

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opposing gene on the chromatid is identical

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Heterozygous for a gene

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opposing gene on the chromatid is different

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Dominant gene

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gene that makes the appearance of the opposing gene on the opposing chromatid, these genes are expressed if there are heterozygous chromosomes, at least one parent had the gene

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Recessive gene

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gene whose appearance is typically masked by the opposing gene on the opposing chromatid, these genes are expressed if there are homozygous chromosomes, both parents were carriers or expressed the traits for the gene

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Autosomal Dominant

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the dominant trait is found on only one of the paired chromosome sets but, it shows up whether the person is heterozygous or homozygous for the trait

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Autosomal Recessive

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only manifested when the chromatid are homozygous, both parents may be unaffected, but are carriers of the defective gene

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Autosomal Dominant Summary of Inheritance Patterns

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males and females are equally affected, the trait is expressed in the chromosomes, there is a 50% chance that offspring will be affected if one parent has it, 75% if both patents have it

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Autosomal Recessive Summary of Inheritance Patterns

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males and females are equally affected, parents are usually heterozygous and appear normal, there is a 25% chance that offspring will exhibit the disorder if both parents are carriers, a 50% chance if one parent is a carrier and the other exhibits the disorder, 100% chance if both parents exhibit the disorder

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Inheritance Patterns w/ X-linked disorders (males)

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any gene found on X or Y chromosome will be expressed (not recessed), all X-linked disorders will be expressed

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Inheritance Patterns w/ X-linked disorders (females)

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a recessive X-linked disorder will be expressed only if she is homozygous for it, otherwise she is a carrier

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Hereditary Disorders

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can originate from: chromosomes or genes within the chromosomes

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Hereditary Disorders (chromosomes)

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the wrong number of them, change in the structure

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Hereditary Disorders (genes within the chromosomes)

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inherited gene abnormality, spontaneous mutation in a gamete (all cells generated by the body will have the mutation in them if the mutated sex cell is involved at conception, rapid division occurs)

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Euploid cell

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has the correct number of chromosomes

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Aneuploid cell

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missing one or more chromosomes or having an extra set of chromosomes

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Trisomy

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three of one or more chromosomes, it has one extra chromosome (aneuploid)

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Monosomy

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only one of the paired chromosomes is present, it is missing 1/2 of its genetic information (aneuploid)

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Abnormalities in Chromosome Structure

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results from exposure to: radiation, viruses, and environmental agents, caused by: chromosome breakage, rearrangement or loss of the parts that broke off

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Mosaicism (no form)

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chromosome within the sperm or egg is altered in any way then it will replicate that way (all future chromosomes will look like the originial)

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Mosaicism (mild form)

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chromosome not within the sperm or egg is altered after several divisions had already occurred (mixture of normal and abnormal cells develop)

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Turner Syndrome

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monosomy X: the only monosomy you can live with, some forms of this are only missing portions of the second X chromosome (only affects females)

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Turner Syndrome Chracteristics

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short stature, webbing of the neck, low hairline at back of neck, epicanthal folds, wide chest, failure to begin puberty (no ovaries), no secondary sexual characteristics (breasts, pubic hair, axial hair)

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Turner Syndrome perioral and intraoral chracteristics

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high number of melanotic macules on skin, high narrow palate, small mandible, crowding and malocclusion, premature eruption of permanent teeth, permanent teeth have: short roots, thin enamel, less dentin, and simple crown shape

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Tuner Syndrome Health complications

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osteoporosis, scoliosis, heart valve defects, hypertension, type II diabetes mellitus, hypothyroidism, vision and hearing defects, learning disabilities

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Hypohidrotic Ectodermal Dysplasia

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X-linked recessive inheritance pattern/ males exhibit: sparse hair, few teeth, and little or no sweat/ skin is thin and dry/ children will have high fevers of unknown cause since there are few sweat glands

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Hypohidrotic Ectodermal Dysplasia Common oral findings

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thick lips, delayed tooth eruption, hypodpntia (missing 5 or less teeth), oligodontia (missing 6 or more teeth), conical shaped incisors and canines, flippers as children

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Cleidocranial Dysplasia

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autosomal dominant inheritance pattern, caused by deletion of genetic material on chromosome 6, missing a gene responsible for osteoblast formation so bone doesn't form correctly

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Cleidocranial Dysplasia extraoral characteristics

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short stature, scoliosis, underdeveloped hypoplastic or missing clavicles, rounding of the frontal and parietal bones, wide nasal root, depressed nasal bridge, wide set eyes, missing or hypoplastic sinuses

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Cleidocranial Dysplasia intraoral characteristics

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delayed exfoliation of primary dentition, delayed eruption of permanent dentition, multiple supernumerary teeth in permanent dentition

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Clefting of Tissues

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lack of fusion of tissues in lip and palate, can be only in the lip palate uvula or a combination of all the above, a complete cleft of the lip involves the nose

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Cleft Lip

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lack of fusion of lip tissue in-utero (affects MX lip more), severity varies (incomplete or complete)

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Cleft Palate

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Lack of fusion of palatal tissue in-utero, various forms of severity, can include: missing teeth, malocclusion, sometimes supernumerary teeth

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Causes of Clefting

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from genetic links and environmental exposures, 75-80% are from unknown causes, smoking cigarettes and drinking alcohol, medications, and deficiency in folic acid

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Cleft Lip/Palate can cause:

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speech problems, social concerns, interfere with normal function (requires surgical treatment and can scar and permanently affect speech)

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Cleft Lip/Palate treatment:

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pediatrician, pediatric dentist, oral surgeon, plastic surgeon, orthodontist, speech therapist (can involve several surgeries)

Chapter 6 Developmental, Hereditary, and Congenital Disorders – Flashcards

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