Birth Defects Flashcards

1
Q

Anencephaly

A

Absence of a large part of the brain & skull

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2
Q

Spina Bifida

A

Congenital defect of the spine, spinal cord exposed through a gap in the backbone

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3
Q

Arhinencephaly/Holoprosencephaly

A

forebrain of the embryo fails to develop into 2 hemispheres causing facial defects

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4
Q

Hydrocephaly

A

fluid accumulates in the brain enlarging the head and causing brain damage

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5
Q

Anophthalmos/Microphthalmos

A

eye abnormality where one or both eyes are absent

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6
Q

Anotia/Microtia

A

Absence of the EXTERNAL EAR

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7
Q

Transposition of Great Vessels

A

heart defect, Vessels (Aorta and pulmonary artery) are switched

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8
Q

Tetralogy of Fallot

A

heart defect, change normal flow of blood through the heart

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9
Q

Down syndrome

A

chromosomal defect, intellectual disability, weak muscle tone, characteristic facial appearance

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10
Q

Cerebral Palsy

A

impaired muscle coordination and disabilities caused by damage to the brain

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11
Q

Autism

A

mental condition affects the brains normal development of social and communication skills

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12
Q

Aglossia

A

Absence of the tongue

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13
Q

Albinism

A

Albino, little or no color (pigment) in the skin, hair, and eyes

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14
Q

Brachydactlia

A

shorting of FINGERS and toes due to unusually short bones

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15
Q

Anirida

A

partial/complete absence of the iris

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16
Q

Cleft foot and hand

A

single cleft extends from the foot/hand (claw)

17
Q

Heterochromia

A

different colored eyes in the same person

18
Q

Dwarnian ear

A

deformity of the helix part of the baby’s ear

19
Q

Club foot

A

deformed foot, twisted sole cannot be placed flat on the ground

20
Q

Chromatelopsia

A

color blindness, visual defect

colorless objects appear to be tinged with color

21
Q

Polydatyly

A

more than 5 fingers or toes on one or on each hand or foot

22
Q

Small intestine atresia/stenosis

A

disconnected or narrowing of the small intestine

23
Q

Anorectal atresia/stenosis

A

narrowing of the anal canal

24
Q

Hypospadias

A

congenital condition in males, opening of urethra is on the underside of the penis

25
Q

Indeterminate sex

A

genital organs are not usually male or female

26
Q

Renal agenesis

A

one or both fetal kidneys fail to develop

27
Q

Cystic kidney

A

cysts on kidneys reducing function and leading to kidney failure

28
Q

Trisomy 18

A

born small and frail, health problems and physical defects caused by error in cell division

29
Q

Trisomy 13

A

severe intellectual disability and physical abnormalities, 3 copies of chromosome 13

30
Q

Gastroschisis

A

intestines stick out of body through defect on one side of the umbilical cord

31
Q

Omphalocele

A

intestines stick out of the BELLY BUTTON

32
Q

Diaphragmatic hernia

A

abnormal opening in the diaphragm that helps you breath

33
Q

Limb reduction defects

A

part of or entire arm or leg fails to form completely (reduced from its normal size or is missing)

34
Q

Hydroplastic left heart syndrome

A

parts of the left side of the heart does not develop

35
Q

Coarctation of aorta

A

narrowing part of the aorta

36
Q

Cleft palate without cleft lip

A

roof of mouth does not completely close, opening on roof

37
Q

Cleft lip with or without cleft palate

A

lip doesn’t form completely

38
Q

Esophageal atresia

A

digestive system disorder, esophagus (swallowing tube) does not develop properly