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
Indeterminate sex
genital organs are not usually male or female
26
Renal agenesis
one or both fetal kidneys fail to develop
27
Cystic kidney
cysts on kidneys reducing function and leading to kidney failure
28
Trisomy 18
born small and frail, health problems and physical defects caused by error in cell division
29
Trisomy 13
severe intellectual disability and physical abnormalities, 3 copies of chromosome 13
30
Gastroschisis
intestines stick out of body through defect on one side of the umbilical cord
31
Omphalocele
intestines stick out of the BELLY BUTTON
32
Diaphragmatic hernia
abnormal opening in the diaphragm that helps you breath
33
Limb reduction defects
part of or entire arm or leg fails to form completely (reduced from its normal size or is missing)
34
Hydroplastic left heart syndrome
parts of the left side of the heart does not develop
35
Coarctation of aorta
narrowing part of the aorta
36
Cleft palate without cleft lip
roof of mouth does not completely close, opening on roof
37
Cleft lip with or without cleft palate
lip doesn't form completely
38
Esophageal atresia
digestive system disorder, esophagus (swallowing tube) does not develop properly