Cleft Types & Phenotypic Features Flashcards
Cleft
An abnormal opening or fissure in an anatomical structure that is normally closed. Generally, all structures present but not fused
Hypoplastic
Underdevelopment of a tissue or organ
Incomplete primary palate
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
Primary Palate
Structures anterior to the incisive foramen
Secondary palate
Structures posterior to the incisive foramen
Incomplete secondary palate
Any cleft of the secondary palate that does not reach the incisive foramen
Complete primary palate
The cleft extends through the entire lip, nasal sill, alveolus to the incisive foramen
Complete Secondary palate
Cleft extends from the uvula, velum, continues through the hard palate all the way to the incisive foramen
Premaxilla
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.
Prolabium
What the philtral tissue is called when it becomes isolated by a bilateral cleft of the lip
Premaxillary Segment
What the premaxilla is called when it becomes isolated by a complete bilateral cleft of the primary palate. Can be protruded and/or rotated.
Form Fruste
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.
Orientation and affect on muscles
With unilateral cleft lip…
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
Orientation and affect on muscles
With bilateral cleft lip…
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
Cleft Lip & Palate: Orientation & Affect on muscles
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
Submucous Cleft Palate
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.
Overt Submucous Cleft Palate
One that can be seen on the oral surface; bifid or hypoplastic uvula, notch in the posterior border of the hard palate, zona pellucida
Occult Submucous Cleft
defect of velum not apparent on the oral surface
Simonart’s Band
A strand of soft tissue in the area of the cleft lip that is due to partial yet incomplete, embryonic fusion of the lip.
Palatal Fistula
A hole in the palate secondary to a dehiscence or break down of the surgical repair.
Nasolabial Fistula (alveolar fistula)
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
Oblique Cleft
Begins at the mouth and can affect facial bones, nasal structures, orbits and ears
Midline Cleft
Varies in severity and are often associated with other midline anomalies
Parry-Romberg Syndrome
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
Phenotypic feature
The many phenotypic features in addition to clefts
An obvious and observable trait; an expression of genes in an observable way
Anodontia
Congenital absence of all primary and permanent teeth
Anotia
Congenital absence of the pinna
Clinodactly
Deflection or curvature of the digits
Coloboma
A hole in one of the structures of the eye such as the iris or retina or a notch of the eyelid margin
Ectrodactyly
Deficiency or absence of one or more central digits of the hand or foot
Epibulbar dermoid
Cyst on the eyeball
Epicanthal folds
Folds of tissue that extend from the upper eyelid to the lower part of the orbit at the inner canthus.
Exophthalmos
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
Hypertelorism
Excessive distance between the eyes
Hypotelorism
Narrow-spaced eyes
Strabismus
The two eyes do not line up in the same direction
White streak of hair associated with…
Waardenburg Syndrome
Hypertrichosis
Excessive body hair
Synophrys
Arched eyebrows that often grow together in the middle
Glossoptosis
The posterior displacement of the tongue in the pharynx, can cause airway obstruction
Encephalocele
A congenital gap in the skull with herniation of brain tissue into the nose or palate
Lip Pits
Depressions in the bottom lip that are usually bilateral and are associated with Van der Woude syndrome
Macroglossia
Large tongue
Macrostomia
A large mouth opening often due to failure of fusion between the maxillary and mandibular process of embryonic development of the face
Microdontia
Some or all of the teeth are small
Microcephaly
Small head circumference for age
Microstomia
Small mouth opening
Micrognathia
A small or hypoplastic mandible
Microtia
Hypoplasia or absence of the pinna
often accompanied by aural atresia
Microphthalmia
Small eye/eyes
Phenotypic features of the Nose
Beaklike Short nose Flat philtrum Flat nasal bridge Narrow nasal base Bulbous nasal tip
Midface retrusion
Concavity of the midface due to maxillary hypoplasia
Omphalocele
Where part of the intestines may be outside of the abdomen in the region of the umbilical cord
Sacral Dimple
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
Preauricular tags or pits
Pits can be in front of or behind the ear.
Tags can be found from ear to cheek
Simian Crease/Single Transverse Palmer Crease
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
Syndactyly
Fusing or webbing of the digits
Thin upper vermillion
Thin upper lip
