Cleft Types & Phenotypic Features Flashcards

1
Q

Cleft

A

An abnormal opening or fissure in an anatomical structure that is normally closed. Generally, all structures present but not fused

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2
Q

Hypoplastic

A

Underdevelopment of a tissue or organ

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3
Q

Incomplete primary palate

A

It can be as minor as notch in the lip or extend to part of the alveolus but the cleft does not extend to the incisive foramen

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4
Q

Primary Palate

A

Structures anterior to the incisive foramen

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5
Q

Secondary palate

A

Structures posterior to the incisive foramen

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6
Q

Incomplete secondary palate

A

Any cleft of the secondary palate that does not reach the incisive foramen

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7
Q

Complete primary palate

A

The cleft extends through the entire lip, nasal sill, alveolus to the incisive foramen

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8
Q

Complete Secondary palate

A

Cleft extends from the uvula, velum, continues through the hard palate all the way to the incisive foramen

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9
Q

Premaxilla

A

The triangular-shaped bone that is bordered on either side by the incisive suture lines; this bony segment normally contains the central and lateral maxillary incisors.

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10
Q

Prolabium

A

What the philtral tissue is called when it becomes isolated by a bilateral cleft of the lip

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11
Q

Premaxillary Segment

A

What the premaxilla is called when it becomes isolated by a complete bilateral cleft of the primary palate. Can be protruded and/or rotated.

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12
Q

Form Fruste

A

Microform cleft
A partial cleft lip where the overlying skin is intact but the underlying muscle, nasal cartilage and oral sphincter function can be affected.

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13
Q

Orientation and affect on muscles

With unilateral cleft lip…

A

The orbicularis oris inserts at the columella medially and ala laterally on the cleft side.
The columella is displaced to the noncleft side.
Nasal ala on the side of the cleft is displaced laterally, inferiorly, and posteriorly.
Nasal tip is deflected towards the noncleft side

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14
Q

Orientation and affect on muscles

With bilateral cleft lip…

A

Orbicularis oris attaches at the lateral cleft margins bilaterally at the nasal ala
• If the premaxilla is also clefted bilaterally, the premaxillary segment may be protruded/rotated
• Symmetrical nasal deformities
Laterally displaced ala – widely flared
Extremely short columella

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15
Q

Cleft Lip & Palate: Orientation & Affect on muscles

A

With cleft palate, structures fail to meet in midline and attach to other structures.
The levator veli palatine and palatopharyngeus muscles insert onto the hard palate. These substitute attachments prevent muscles from becoming functional or form fully
The palatine aponeurosis is hypoplastic or absent
The musculus uvula muscles are often hypoplastic or absent
Vomer may attach to the larger of the two palatal segments in a unilateral cleft. It can also not be attached to either, particularly when it is a bilateral complete cleft of the lip and palate or a very wide complete cleft of the secondary palate

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16
Q

Submucous Cleft Palate

A

A congenital defect that affects the structures on the nasal side of the palate, whereas the structures on the oral surface are intact; can affect both the hard and soft palate.

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17
Q

Overt Submucous Cleft Palate

A

One that can be seen on the oral surface; bifid or hypoplastic uvula, notch in the posterior border of the hard palate, zona pellucida

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18
Q

Occult Submucous Cleft

A

defect of velum not apparent on the oral surface

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19
Q

Simonart’s Band

A

A strand of soft tissue in the area of the cleft lip that is due to partial yet incomplete, embryonic fusion of the lip.

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20
Q

Palatal Fistula

A

A hole in the palate secondary to a dehiscence or break down of the surgical repair.

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21
Q

Nasolabial Fistula (alveolar fistula)

A

A fistula in the alveolus, under the lip, that is often deliberately left by the surgeon during the initial repair to allow for maxillary growth. It is later closed by the bone graft

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22
Q

Oblique Cleft

A

Begins at the mouth and can affect facial bones, nasal structures, orbits and ears

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23
Q

Midline Cleft

A

Varies in severity and are often associated with other midline anomalies

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24
Q

Parry-Romberg Syndrome

A

Rare
Progressive deterioration (atrophy) of the skin and soft tissues of half of the face.
Begins between ages 5-15
Surgical correction only after the disease has run its course is advised
Suspected to be autoimmune

25
Q

Phenotypic feature

A

The many phenotypic features in addition to clefts

An obvious and observable trait; an expression of genes in an observable way

26
Q

Anodontia

A

Congenital absence of all primary and permanent teeth

27
Q

Anotia

A

Congenital absence of the pinna

28
Q

Clinodactly

A

Deflection or curvature of the digits

29
Q

Coloboma

A

A hole in one of the structures of the eye such as the iris or retina or a notch of the eyelid margin

30
Q

Ectrodactyly

A

Deficiency or absence of one or more central digits of the hand or foot

31
Q

Epibulbar dermoid

A

Cyst on the eyeball

32
Q

Epicanthal folds

A

Folds of tissue that extend from the upper eyelid to the lower part of the orbit at the inner canthus.

33
Q

Exophthalmos

A

Protrusion of one or both globes of the eye beyond the socket due to either congenital or pathologic factors that provide pressure behind the eye

34
Q

Hypertelorism

A

Excessive distance between the eyes

35
Q

Hypotelorism

A

Narrow-spaced eyes

36
Q

Strabismus

A

The two eyes do not line up in the same direction

37
Q

White streak of hair associated with…

A

Waardenburg Syndrome

38
Q

Hypertrichosis

A

Excessive body hair

39
Q

Synophrys

A

Arched eyebrows that often grow together in the middle

40
Q

Glossoptosis

A

The posterior displacement of the tongue in the pharynx, can cause airway obstruction

41
Q

Encephalocele

A

A congenital gap in the skull with herniation of brain tissue into the nose or palate

42
Q

Lip Pits

A

Depressions in the bottom lip that are usually bilateral and are associated with Van der Woude syndrome

43
Q

Macroglossia

A

Large tongue

44
Q

Macrostomia

A

A large mouth opening often due to failure of fusion between the maxillary and mandibular process of embryonic development of the face

45
Q

Microdontia

A

Some or all of the teeth are small

46
Q

Microcephaly

A

Small head circumference for age

47
Q

Microstomia

A

Small mouth opening

48
Q

Micrognathia

A

A small or hypoplastic mandible

49
Q

Microtia

A

Hypoplasia or absence of the pinna

often accompanied by aural atresia

50
Q

Microphthalmia

A

Small eye/eyes

51
Q

Phenotypic features of the Nose

A
Beaklike
Short nose
Flat philtrum
Flat nasal bridge
Narrow nasal base
Bulbous nasal tip
52
Q

Midface retrusion

A

Concavity of the midface due to maxillary hypoplasia

53
Q

Omphalocele

A

Where part of the intestines may be outside of the abdomen in the region of the umbilical cord

54
Q

Sacral Dimple

A

indentation, present at birth, in the skin on the lower back.

It’s usually located just above the crease between the buttocks. Most sacral dimples are harmless and don’t require any treatment.
Sacral dimples that are accompanied by a nearby tuft of hair, skin tag or certain types of skin discoloration are sometimes associated with a serious underlying abnormality of the spine or spinal cord. In these instances, your child’s doctor may recommend an imaging

55
Q

Preauricular tags or pits

A

Pits can be in front of or behind the ear.

Tags can be found from ear to cheek

56
Q

Simian Crease/Single Transverse Palmer Crease

A

Fusion of the two transverse palmar creases, an event that occurs prior to the 12th week of fetal life, creates a single crease extending horizontally across the entire palm

57
Q

Syndactyly

A

Fusing or webbing of the digits

58
Q

Thin upper vermillion

A

Thin upper lip