face/neck

Question 1

A herniation of cranial contents through a defect in the skull is called _______.

Answer 1

Cephalocele

Question 2

Premature closure of any or all six cranial structures is ________.

Answer 2

Craniosynostosis

Question 3

Premature closure of the metopic structure is _________.

Answer 3

Trigonocephaly

Question 4

The upper jaw, cheekbones and eye sockets have not grown as much as the rest of the face is called __________.

Answer 4

Midface/Maxillary Hypoplasia

Question 5

Abnormal development of the head and face before birth is called _________.

Answer 5

Frontonasal Dysplasia

Question 6

A type of germ cell tumor that may contain several different types of tissue, such as hair, muscle, and bone is called _______.

Answer 6

Teratoma

Question 7

A rare form of congenital teratoma originating from the base of the skull, most commonly the hard palate, or the mandible is called _______.

Answer 7

Epignathus

Question 8

Enlarged tongue

Answer 8

Macroglossia

Question 9

Congenital overgrowth of tissues

Answer 9

Beckwith-Wiedemann syndrome

Question 10

A lower jaw that is smaller than normal

Answer 10

Micrognathia

Question 11

A rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction.

Answer 11

Pierre Robin Syndrome

Question 12

A rare, genetic condition affecting the way the face develops — especially the cheekbones, jaws, ears and eyelids

Answer 12

Treacher Collins Syndrome

Question 13

Abnormal smallness of one side of the face

Answer 13

Hemifacial Microsomia

Question 14

Absence of mandible causing ears to be too close together

Answer 14

Otocephaly

Question 15

A rare congenital condition characterized by abnormal development of the eye, ear and spine

Answer 15

Goldenhar’s Syndrome

Question 16

Absent eye

Answer 16

Anophthalmia

Question 17

Small ears

Answer 17

Roberts Syndrome

Question 18

Small eyes

Answer 18

Microphthalmia

Question 19

formed when a distal blockage (usually membranous) of the lacrimal sac causes distention of the sac, which also kinks and closes off the entrance to the common canaliculus.

Answer 19

Dacryocystocele

Question 20

misalignment of the eyes, causing one eye to deviate inward (esotropia) toward the nose, or outward (exotropia), while the other eye remains focused.

Answer 20

Strabismus

Question 21

Bulging eyes

Answer 21

Exophthalmia

Question 22

large distance between the eyes

Answer 22

Hypertelorism

Question 23

baby’s head is much smaller than expected

Answer 23

Microcephaly

Question 24

the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into double lobes of the cerebral hemispheres.

Answer 24

Holoprosencephaly

Question 25

Absence of nose

Answer 25

Arhinia

Question 26

an anterior appendage-like structure is seen projecting from the midline fetal face/forehead

Answer 26

Proboscis

Question 27

a lump that develops in the neck or just below the collarbone

Answer 27

Branchial cleft cysts

Question 28

a birth defect that appears as a sac-like structure with a thin wall that most commonly occurs in the head and neck area of an infant.

Answer 28

Cystic Hygroma

Question 29

Enlarged thyroid glands

Answer 29

Fetal Goiter

Question 30

a disorder in which the thyroid gland — the butterfly-shaped gland in the neck — becomes abnormally enlarged.

Answer 30

Thyromegaly

Question 31

A type of germ cell tumor that may contain several different types of tissue, such as hair, muscle, and bone.

Answer 31

Teratoma