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64 Cards in this Set
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Dysmorphology |
Congenital defects and abnormalities of body structure that originate before birth. |
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Malformation
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1) "A structural defect in the body due to abnormal embryonic or fetal development" 2) Is a primary defect where there is a basic alteration of structure due to abnormal fetal development usually occurring before 10 weeks of gestation. 3) Usually multi-factorial Eg. Cleft palate/lip, anencephaly, Congenital Heart defect. |
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Malformation sequence
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1) " Pattern of defects resulting from a single malformation" Examples: Both Talipes and Hydrocephalus can result from a lumbar neural tube defect. Oligohydraminos (Or Potter) Sequence) Pierre Robin sequence is a congenital condition of facial abnormalities in humans. |
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Malformation syndrome
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1) A pattern of features, often with an underlying cause, that arises from several different errors in morphogenesis
2) Occur together to a greater degree than just chance without a known genetic etiology. Example: Turner Syndrome |
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Association
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"Genetic association is when one or more genotypes within a population co-occur with a phenotypic trait more often than would be expected by chance occurrence." 2) Do not have a predictable pattern or unified etiology (e.g. VATER association). |
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Deformation
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Also known as "Congenital disorders" "Is a condition existing at or before birth regardless of cause. " "those characterized by structural deformities are termed "congenital anomalies" and involve defects in a developing fetus." "Birth defects may be the result of genetic or environmental factors. This includes errors of morphogenesis, infection, epigenetic modifications on a parental germline, or a chromosomal abnormality." "Outside of normal structure. This could be due to uterine malformation, twins or oligohydramnios (e.g. contractures of limbs and talipes deformity." |
lol @ this band |
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Disruption
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1) Disruption or Destruction of tissue that was previously normal.
Examples of disruptive agents: amniotic bands, local tissue ischemia or hemorrhage. |
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Dysplasia
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"An abnormality of development or an epithelial anomaly of growth and differentiation" For example: Within Cartilage or Bone in Skeletal Dysplasias (e.g. achondroplasia). |
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Major abnormalities
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Are:
Severe, impair normal body function and require surgery for management E.G. cleft palate, congenital heart disease. They may be isolated or multiple affecting different body systems. |
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Minor abnormalities
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Are:
Primarily of cosmetic significance (e.g. small ear, fifth finger clinodactyl). They occur with variable frequencies in the normal population. |
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Brachycephaly
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Shorter skull & flat occiput "A kind of craniosynostosis" |
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Oxycephaly
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Top of the skull is pointed, premature closure of coronal & lamboid sutures Oxycephaly is the most severe of the craniosynostoses. |
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Dolichocephaly
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Head is longer than would be expected, relative to its width "A kind of craniosynostosis" |
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Trigonocephaly
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1) Premature fusion of the Metopic suture 2) Leading to a triangular shaped forehead "A kind of craniosynostosis" |
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Microcephaly
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The brain does not develop properly resulting in a smaller than normal head Microcephaly is a type of cephalic disorder. Two Types: Congenital Postnatal |
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Macrocephaly
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The head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.
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Synophrys
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Unibrow, fused eyebrows |
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Hypotelorism (Hipotelorism)
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Decreased inner canthal distance – eyes closer together "Abnormally decreased distance between two organs or bodily parts, usually pertaining to eyes (orbits), also known as orbital hypotelorism." |
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Hypertelorism (Hipertelorism)
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Increased canthal distance – Widely spaced eyes Upslanting and downslanting of parpebral fissuresforehead. |
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Upslanting palpebral fissures
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Upslanting = Specific type of eyelid shape (down syndrome) Downslanting of parpebral fissures: specfic type of eyelid on Nooman syndrome |
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Blephrophimosis
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A condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened. |
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Ptosis of eyelids
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1) Dropping or falling of one eyelid 2) Bilateral ptosiswith reduced lid size, vertically and horizontally….droopy small eyelids |
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Epibulbar dermoids
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Benign tumor above the bulbar region of the eye. |
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Microtia
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Small ears "Congenital deformity where pinna is underdeveloped" Can be uni or bilateral. 1:8k |
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Microstomia
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Small Mouth "Congenital or acquired reduction in mouth size" Associated with Freedon-Shellmansyndrome. |
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Macrostomia
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Refers to a mouth that is unusually wide. Heritable autosomal dominant disease. Macrostomia is characterized as a physical abnormality that causes clefts to form on the face of affected individuals. 1 : 150k-300k Chromosome: (1p32-1p34) Gene: A single base substitution in the 11th coding region of the gene PTCH2 changes an adenine to guanine |
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Cleft lip and palate
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Also known as orofacial cleft 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. (Seen during the 4th week of pregnancy) A cleft palate is when the roof of the mouth contains an opening into the nose. 1:700, many different genes affected. Risk factors: Smoking, Diabetes, Older Mother. Causes problems with feeding, ear function, & speech. |
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Cleft palate
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A cleft palate is when the roof of the mouth contains an opening into the nose. |
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Short philtrum
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"Reduced distance between nose and mouth." Associated with Cohensyndrome (Chromosome 18q deletion) |
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Long flat philtrum
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"Increased distance between nose and mouth"
Characteristic of fetal alcohol syndrome or Prader–Willi syndrome |
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Micrognathia
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Small madible Associated with Prader Willi & Crit Du Chat |
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Marcrognathia
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Big mandible Associated with pituitarygigantism |
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Macroglossia with bifid tip
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Big tongue with two tips Macroglossia: Mostcommonly caused by lymphangioma or muscular hypertrophy like Beckwith Wiedemann |
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Bifid uvula
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A bifid or cleft uvula. "A bifid or bifurcated uvula is a split or cleft uvula. Newborns with cleft palate often also have a split uvula." The bifid uvula results from incomplete fusion of the palatine shelves but it is considered only a slight form of clefting." Cancause ear infection due to less musculature. Can be associated with Loeys Dietzsyndrome |
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Brachydactyly
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Short fingers and toes (Digits) Type A1: Most Common, Autosomal Dominant, Type D: clubbed thumbs. Can be found in syndromes like Downs Syndrome. |
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Arachnodactyly
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"The fingers and toes are abnormally long and slender" Mutation in Fibrillin 1 or 2 gene Examples include: Marfan syndrome Ehlers-Danlos syndrome Loeys–Dietz syndrome Congenital contractural arachnodactyly Homocystinuria. |
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Clinodactyly
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Curved fingers usually the fifth digit, commonin Downs & Turner syndrome. "A medical term describing the curvature of a digit, in the plane of the palm, most commonly the fifth finger, towards the adjacent fourth finger" |
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Syndactyly
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Two or more digits are fused together. Usuallyon: 2q34-36 2q31 2q31-32 6q21-23 |
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Ectrodactyly
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AKA: split hand, cleft hand Autosomal dominant duplication 10q24 "Involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM)" "Often described as "claw-like" and may include only the thumb and one finger" |
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Hemimelia
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"Fibular/Tibial/Radial/Ulnar" Hemimelia Example: " Fibular" Hemimelia: Congenital longitudinal deficiency of the "fibula" (can be Ulnar/Tibia/Radius) |
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Apodia
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Congenital absence of one or both feet. |
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Axial hand reduction (I'm not sure on this one)
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Reduction of shoulder? |
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Postaxial polydactyl |
Ulnar or postaxial polydactyly
Where the additional digit is on the ulnar margin ofthe hand, or lateral to the 5th toe
Chromosomes: 7q13-7q22 |
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Camptodactyly
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"One or more fingers to be permanently bent"
"Contraction of fingers" Associated with Freeman–Sheldon syndrome, & Marfans Syndrome. |
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Polysyndactyly
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Polysyndactyly is an hereditary anatomical malformation combining polydactyly and syndactyly. Fusion of several fingers or toes = Syndactyl. Polydactyl = extra digits (toes or fingers) |
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Siamian crease
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"Is a single line that runs across the palm of the hand" Trisomy 21 (Down Syndrome), Patau (T-18) Crit Du Chat |
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Macrodactyly
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Large digits |
lol |
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Rocker bottom fit
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"Shoe with thicker sole to accommodate flat foot." "Congenital vertical talus, is an anomaly of the foot. It is characterized by a prominent calcaneus (heel bone) and a convex rounded bottom to the foot." |
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Sandal gap
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Gap between first and second toes "Increase in the inter-space between the great toe of the foot from the rest of the toes" |
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Clasped thumb
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"Adducted and flexed clasped thumb" "Congenital flexion-adduction deformity of the thumb that persists beyond the 3rd or 4th month of life" |
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Café au lait spot
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Hyperpigmented regions of skin borders can be smooth or irregular |
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Knee pterygium
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An extensive web running from behind the knee down to the heel.
Can see malformed toenails,and webbed toes |
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Hirsutism
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Excessive body hair in men and women in parts of the body where hair is normally absent or minimal. Note: Male-pattern hair growth in women |
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Alopecia
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Spot baldness, is an autoimmune disease in which hair is lost from some or all areas of the body, usually from the scalp. Occurs in BOTH Men & Women. |
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Hipertrichosis
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Is an abnormal amount of hair growth over the body and/or face.
Werewolf syndrome. |
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Webbed neck
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Congenital skin fold that runs along the sides of the neck down to the shoulders. Example: Turner syndrome. |
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Pectus carinatum
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Also called pigeon chest. A deformity of the chest characterized by a protrusion of the sternum and ribs. |
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Pectus excavatum
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A congenital deformity of the anterior thoracic wall in which the sternum and rib cage grow abnormally.
This produces a caved-in or sunken appearance of the chest |
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Myelomeningeocele
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Is a neural tube defect in which the bones of the spine do not completely form. Incomplete spinal canal: "Incomplete closing of the backbone and membranes around the spinal cord" The spinal cordand meninges (the tissues covering the spinal cord) protrude from (stick outof) the child's back There are three main types: spina bifida occulta, meningocele, and myelomeningocele. |
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Encephalocele
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Sometimes known as cranium bifidum.
Is a neural tube defect characterized by saclike protrusions of the brain and the membranes that cover it through openings in the skull. |
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Bow knees
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Genu varum.
Is a physical deformity marked by (outward) bowing of the lower leg in relation to the thigh |
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Knock knees
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Genu valgum
is a condition in which the knees angle in and touch one another when the legs are straightened |
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Gastroschisis
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A congenital defect characterized by a defect in the anterior abdominal wall through which the abdominal contents freely protrude
"Baby's intestines stick outside of the baby's body, through a hole beside the belly button" |
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Clitoromegaly
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An abnormal enlargement of the clitoris that is mostly congenital or acquired.
Congenital: The autosomal recessive congenital disorder known as Fraser syndrome. Aquired causes: Polycystic ovarian syndrome (PCOS) and hyperthecosis. Also, Androgen use. |
NO |
