genetic syndrome vocab Flashcards

1
Q

What is glossoptosis

A

retracted tongue

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2
Q

what is proboscis

A

elongated nose

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3
Q

what is cyclopia

A

d/o resulting in one eye

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4
Q

what is ptosis

A

drooping of eyelids

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5
Q

what is macroocephaly

A

large head

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6
Q

what is micrognathia

A

reduced size of lower jaw

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7
Q

what is epicanthus

A

folded skin over upper eyelids coving the inner corner or “canthus”

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8
Q

what is myopia

A

near sightedness

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9
Q

what is platybasia

A

spinal disease caused by a malformation of the occipital bone and spine

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10
Q

what is osseous dysplasia

A

abnormal development of bone

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11
Q

what is macroglossia

A

unusually enlarged tongue

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12
Q

what is microcephaly

A

unusually smaller head

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13
Q

what is hypoplasia

A

under/incomplete development of a tissue/organ causing it to be reduced in size

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14
Q

what is acrocephaly

A

high pointed skull

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15
Q

what is prognathism

A

protrusion of the jaw (underbite)

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16
Q

what is hypoplastic

A

not enough cells to grow tissue or normally develop organs

17
Q

what is chondrodysplasia

A

abnormal development of cartilage causing a part of a bone to ossify separately

18
Q

what is dolichoturricephaly

A

skull abnormality causing a high forehead

19
Q

what is hypertrophy

A

overdevelopment of an organ causing it to increase in size

20
Q

what is craniosynostosis

A

condition in infancy where the skull fuses, turns into bone prematurely

21
Q

what is microglossia

A

birth defect causing the tongue to be abnormally smaller

22
Q

what is agenesis

A

failure of the corpus callous to develop normally during gestation

23
Q

what is brachysphenocephalic

A

anomaly of brain development resulting in small wedged shape head

24
Q

what is dystopia canthorum

A

widened nasal bride, eyes are further apart

25
Q

what is ocular hypotelorism

A

decreased distance between the eyes causing the bridge of the nose to be unusually narrow