Syndromes affecting the palate/ dental implant courses

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Syndromes affecting palate

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Contents • Introduction• Syndromes associated

with cleft palate• Syndromes associated

with high arched palate• Other syndromes



Introduction • Syndrome Greek -"run together”

• Many syndromes are named after the physicians

credited with first reporting the association; these are

"eponymous" syndromes

• A group of signs and symptoms that vary in degree of

expression but ultimately converge in same phenotypic

findings.

• A group of signs and symptoms that occur together &

characterize a particular abnormality.


Syndromes associated with cleft

palate


• Pierre Robin syndrome

• Goldenhar’ syndrome

• Apert syndrome

• Van derwoude syndrome

• Orofacial digital syndrome

• Crouzon syndrome

• Treacher Collins syndrome

• Cleidocranial dysplasia

• Velo-cardio-facial syndrome

• Hypoglossia-Hypodactylia syndrome


• Marfan syndrome

• Median cleft face syndrome

• Oto-palato digital syndrome

• 1st arch syndrome

• Nager syndrome

• Patau syndrome

• Larsen syndrome , Edward Syndrome

• Blepharocheilodontic syndrome

• Elashy Water syndrome


PIERRE ROBIN SYNDROME

• First described by - Lannelongue and Menard in 1891

• In 1923, Pierre Robin – diad of micrognathia, glossoptosis

• In 1934 – he revised definition to triad – u-shaped cleft

palate

• 1984 – lewis – PR sequence

• sequence - multiple secondary anomalies derived from

single anomaly.

• Pierre Robin Sequence – Otolaryngol Clin N Am . 2012; 45: 695 –

710


Affects 1 in 8500 births.

Etio Pathogenesis

Mandibular hypoplasia - growth disturbance ( 7th to 11th week)Due to multigravid pregnancy

OligohydramniosUterine anomaly

All these place childs chin in a flexed position into chest- restricted growth

Fusion normally occurs in 8th to 10th week


Genetics • Changes in the DNA near the SOX9 gene are the most

common genetic cause of isolated Pierre Robin

sequence.

• SOX9 gene - protein that plays a critical role in the

formation of many different tissues and organs during

embryonic development.

• Especially those that are important for development of

the skeleton, including the mandible.


Clinical features

• Micrognathia (91.7%) Mandible has a

small body and a posteriorly

located condyle

• Glossoptosis (70-85%) Combination of

micrognathia and glossoptosis may cause severe respiratory

and feeding difficulty in the newborn

• Cleft palate - 14-91% affect the soft and hard palate and is

usually U-shaped (80%) or V-shaped

• Obstructive sleep apnea may occur


Classic u shaped cleft palate

V shaped cleft palate


• May present as a bifid / double uvula

• Dental and philtral malformations

• Most common otic anomaly is otitis media - 80%,

auricular anomalies - 75% of cases

• Hearing loss, external auditory canal atresia

• Anomalies of the inner ear

• Laryngomalacia

• Speech defects


• Velopharyngeal insufficiency is usually more

Pronounced in these patients than in those with

isolated cleft palate

• Ocular anomalies (10-30%) - Hypermetropia, myopia,

astigmatism, corneal sclerosis, and nasolacrimal duct

stenosis


• Systemic anomalies – 10-85%

CVS - benign murmurs

• pulmonary stenosis

• patent ductus arteriosus

• patent foramen ovale,

• ASD & pulmonary hypertension


• Musculoskeletal system:

• Syndactyly

• dysplastic phalanges

• polydactyly

• oligodactyly in the upper limbs

• clinodactyly


lower extremities :

• foot anomalies

• Anomalies of the knee

• Tibial abnormalities

• Vertebral column deformities

• Scoliosis

• kyphosis,

• Lordosis

• vertebral dysplasia


• CNS defects

• Language delay

• Epilepsy

• Neurodevelopmental delay

• Hypotonia

• hydrocephalus

• Gastroesophageal reflux


MANAGEMENT

• Treatment - according to the severity of airway

compromise followed by the extent of feeding difficulties

• Infants with pronounced micrognathia - respiratory

distress - Tracheostomy

• Other surgical procedures, such as subperiosteal release of

the floor of the mouth

• Any glossopexy should be released before significant

dentition develops

• Mandibular lengthening - DO - mandibular hypoplasia


Cleft palate• Intially – palatal prosthesis

• Surgical procedures to repair the cleft palate

• Multistage approaches in which the velum is initially closed

and hard palate repair is delayed

• The most common procedure is the single-stage palate (hard

and soft) closure, performed when the child is aged 6-18

months


APERT SYNDROME • acrocephalosyndactylia in 1906

• Rare autosomal dominant disorder

• Characterised by craniosynostosis, syndactyly,

craniofacial anomalies.

• Prevalence is estimated at 1 in 65,000

• Asians have the highest prevalence

• No sex predilection


ETIO PATHOGENESIS & GENETICS

• 98% cases – mutations of FGFR2

• Leads to increased no of precursor cells that enter

osteogenic pathway

• Increased sub periosteal bone matrix

• Premature calvaria ossification during fetal

development

• Rate of suture fusion determine degree of disability &

deformity


Clinical features

• Detected in neonatal life

• Craniosynostosis – of coronal suture

• Leads to acrocephaly ( tower skull)

• Acrobrachycephaly Flat occiput

• High prominent forehead

• Large late closing fontanels – gaping midline defect is

seen


Eyes : down slanting palpebral fissures

• Hypertelorism, Shallow orbits

• Proptosis

Nose : depressed nasal bridge

• Short, wide , bulbous tip ( parrot

beak appearance)

• Reduced size of nasopharynx-

respiratory distress

• Low set ears – occasional hearing

loss


• Jaw : prominent maxillary hypoplasia

• V shaped maxillary dental arch, Bulging of alveolar

ridges

• High arched palate / cleft palate

• Swellings – lateral HP, from accumulation of

glycosaminoglycans especially hyaluronic acid

• Which enlarge – pseudo cleft of HP.

• Delayed and ectopic eruption, SN teeth


• Shovel shaped incisors

• Malocclusion – class III + ant. Open bite/ crossbite

• Crowded teeth

• Trapezoid shaped lips – closed – mid face

hypoplasia + mouth breathing

• Others : CNS & CVS malformations

• Loss of vision – in cases of subtle ICP

• Intelligence : normal to subnormal

• HYPERHIDROSIS


• Syndactyly of hands & feet

• Partial / complete fusion of digits ( 2nd, 3rd, 4th)

• Severe – all digits fused - Mitten hands, sock feet


MANAGEMENT

• Surgical care – early release of coronal suture, fronto –

orbital advancement, reshaping

• Prognosis – age of operation

• Craniosynostosis – brain compression & MR

• Relieved by – craniotomy & ectomy

• Cosmetic & funct. Defects – multidisci. Approach

• Mid facial advancement

• Orthodontic treatment

• Surgery – separate fused fingers


Treacher collins syndrome (TCS)

• Mandibulo Facial dysostosis

• Autosomal dominant inheritance

• Occur – 1 in 50,000

• Males = females

• 50% - familial Rest – sporadic


Genetics & Etopathogenesis

• Caused by mutation in TCOF1 gene/ treacle on

chromosome 5

• Decreased neural crest cells (needed for craniofacial dev)

• Clinical disease is thought to be related to absence/

abnormality of anterior portion of fetal stapedial artery

• Supplies middle ear, maxilla, mandible

• As posterior stapedial artery – normal, skull, scalp, area

posterior to ear are normal.


Clinical features :

• Eye : antimongoloid palpebral fissures

• Coloboma of outer portion of lower lid

• Deficiency of eye lashes

• Hypoplasia of facial bones

• Malar bones & mandible

• Blind fistulas between angles of mouth & ear


• Facial cleft

• Skeletal deformities

• Bird like face/ fish like face

• Maxillary sinus & mastoid sinus

are not pneumatised.


• Jaws : mandible is hypoplastic

• Creates anterioposterior deficiency with Anterior open

bite

• MPA – obtuse, prominent antigonial notching

• Hypoplasia of ramus, condyle

• Macrostomia

• High arched palate, cleft palate ( 30%)

• Scissor bite malocclusion, rotated, lingually tipped

teeth


MANAGEMENT

• Reconstructive surgical planning – ceph + CT

• Complete audiological examination

• First – middle ear , to restore hearing loss

• Orbital reconstruction + zygoma – bone grafts

• Lower eyelid : improved with cross eyelid flap & lateral

canthus repositioning

• Bilateral DO of mandible to improve osseous defects

• Ortho dontic + gnathic – malocclusion + function

+esthetics


NAGER SYNDROME• Acrofacial dysostosis

• Nager syndrome disrupts the development of structures

formed from first and second pharyngeal arches

• Cause – unknown, Rare - mainly affects the

development of the face, hands, and arms

• syndactyly , clinodactyly

• Forearms may be shortened due to the partial or

complete absence of a bone - radius


• EYES : slant downward, absent eyelashes, coloboma

of eye lid

• small or unusually formed ears

• Malar hypoplasia

• Micrognathia

• Cleft palate


Goldenhar syndrome • HFM /Oculo ,Auriculo, vertebral syndrome

• 2nd most common craniofacial anomaly

• Affects 1: 56000 live births

• Male predominance ( 3: 2)

• Usually unilateral ( right > left, (3:2)

• Autosomal dominant inheritance


Etiopathogenesis

• Defective dev of 1st & 2nd branchial arches

• Reduced growth & dev of ½ of face

• Most commonly affects – mandible, external, middle ear,

zygoma, hyoid, vertebra, parotid, 5th & 7th CN, Muscles,

soft tissues


clinical features

• Usually appears at birth

• Striking appearance caused by progressive failure of

affected side

• Skull is diminished in size on affected side

• Ocular : coloboma, epibulbar dermoids, lipo dermoids

• Microphtholmia

• Auditory : microtia, anotia, peri/pre auricular tags


• Craniofacial: microsomia, Microstomia

• Cleft lip & palate, Mand. Hypoplasia

• Occlusal plane tilted towards affected side

• Delayed eruption & hypodontia on affected side


• Vertebral : cervical spine hemivertebra / fusion

• Scoliosis

• Spina bifida

• Cardiac anomalies

• Radial anomalies : hypoplasia/ agenesis of thumb

• Polydactyly

• Functional defects: impaired vision, hearing loss,

dysphagia.


Radiographic features :

• Decreased size of bones on affected side

• Mandible lack of dev – condyle, coronoid, ramus

• Dentition – decreased in size and number

• CT : dec in size of muscles of mastication and facial

expression

• Course of facial N -Abnormal on CT examination


MANAGEMENT

• Mandibular abnormalities – conventional orthognathic

surgery

• DO – to lengthen ramus on affected side

• Ortho. Intervention – correct / prevent malocclusion

• Ear abnormalities – plastic surgery / MFP

• HEARING LOSS – hearing aids

• Profound – cochlear implants


Cleidocranial dysplasia • Marie & saintons disease

• A congenital disorder affecting bone & teeth

• Autosomal dominant mode of inheritance

• Prevalence : 1 : 1 lakh

• Familial/ sporadic mutation caused by mutation in

RUNX2 gene on chromosome 6

• Codes for osteoblast specific transcription factor


• CCD primarily affects skull, clavicle, dentition

• Short stature

• Delayed ossification of skull

• Excessively large fontanellas

• Which remain open until adulthood

• Delayed closing of sutures

• Often close with interposition of wormian bones

• Frontal, parietal, occipital bossing

• Large globular skull, small face – arnold face


• Brachycephalic skull

• Under dev – PNS

• Absence of parietal bones

• Faulty dev of foramen magnum

• Partial absence/ simple thinning of 1 / both clavicles

• Excessive mobility of shoulder girdle


Bulky fore headCentral depressionWidely spaced eyesDeformed clavicle

Patency of anterior fontanella


Oral manifestations :

• High narrow arched palate, Cleft palate

• Maxilla : small, under dev

• Lacrimal, zygomatic bones – under dev

• Multiple un erupted teeth – due to absence of cellular

cementum & Prolonged retention of deciduous teeth

• Multiple SN TEETH – delayed involution of dental

lamina, which becomes reactivated when expected

permanent tooth develops.


MULTIPLE UNERUPTED SN TEETH


Oro facial digital syndrome

• Papillon-League and Psaume syndrome

• A group of related conditions that affect the

development of the oral cavity (the mouth and teeth),

facial features, and digits (fingers and toes).

• 13 potential forms of oral-facial-digital syndrome.

• The different types are classified by their patterns of

signs and symptoms. Features of the various types

overlap significantly.


• oral cavity : split (cleft) in the tongue

• A tongue with an unusual lobed shape

• Growth of noncancerous tumors or nodules on the

tongue.

• Extra , missing, or defective teeth.

• A cleft palate

• Bands of extra tissue (called hyperplastic frenula)

that abnormally attach the lip to the gum


• Facial features : split in the lip (a cleft lip)

• A wide nose with a broad, flat nasal bridge

• Widely spaced eyes (hypertelorism).

• Abnormalities of the digits can affect both the

fingers and the toes

• Syndactyly, Brachydactyly , clinodactyly, polydactyly


TYPE 2 / MOHR SYNDROME• Autosomal recessive inherited disease

• characterized by median cleft lip

• poly lobed tongue

• absence of medial incisors

• Polydactyly of hands and feet

• Cleft palate / high arched palate


Van der woude syndrome

• lip pit syndrome/ dimpled papillae of lip syndrome

• Autosomal dominant

• Caused by deletions in chromosome band 1q32

• Leads to abnormal fusion of palate & lips

• Affects 1 in 1 lakh

• Males = females


• Hallmark - Cleft lip (15%)/ palate (30%) – (50%)

uni/bilateral

• Distinctive pits of lower lip ( 80%)

• Pits are usually medial on vermillion portion of lower lip

• Pits are often associated with accessory salivary glands

that empty in to pits - discharge

• Cleft/bifid uvula

• Maxillary hypodontia


• Missing max incisors/ PM

• Syngnathia ( congenital adhesion of jaws)

• Narrow high arched palate

• Ankyloglossia ( short glossal frenulum/ tongue tie)

• Management : surgical repair of cleft lip & palate

• Surgical excision of lip pits


Crouzon syndrome

• Craniofacial dysostosis

• Constitutes a group of condition characterised by

craniosynostosis

• May / may not occur with syndactyly


• Mutations of FGFR-2 gene,

• Malformations of mesenchyme & ectoderm


• Craniosynostosis – coronal & sagittal

• Acanthosis nigricans – dermatologic manifestation of

crouzon syndrome

• Fontanellas – not obliterated

• Anteroposterior diameter is smaller than transverse

diameter

• Fore head – high, wide

• Hypertelorism, divergent squint

• Antimongoloid eyelid

• Upper eyelid mimicking frog face


• Malocclusion

• Malposed teeth

• Dysphagia

• CLEFT PALATE


VELO CARDIO FACIAL SYNDROME

• Sprintzen syndrome

• Incidence : 1 in 4000 live births


• Hyper nasal speech

• Cleft lip, palate

• Velopharyngeal insufficiency

• Congenital heart disease


VELO CARDIO FACIAL SYNDROME

• Characteristic facial appearance : long face

• small mouth

• Prominent nose with square tip

• hooded eyes,

• Narrow palpebral fissures

• Small ears, attached ear lobes


Stickler syndrome

• Autosomal dominant connective tissue disorder

• Facial : high arched palate

• Bifid uvula

• Cleft palate

• Micrognathia, mid facial hypoplasia

• Flat nasal bridge

• Prominent eyes


• Eyes : myopia, retinal changes leading to

detachment

• Ears : sensineural deafness

• Joints : prominent joints

• Hyperextensibility

• Early onset osteoarthritis


Median cleft face syndrome

• Synonyms : FN dysplasia / syndrome

• Burians syndrome

• Usually sporadic, few familial

• Poly genetic, autosomal dominant

• Results from failure of fusion of MN

process


• Ocular defects : hypertelorism

• Forehead : anterior cranium bifid occultum

• Broad nose, notched nasal tip,

which completely div nostrils

• Low set ears

• Mid face hypoplasia

• Mid line facial cleft, cleft lip/palate

• CNS ABNORMALITIES, tetralogy of fallot


HYPOGLOSSIA – HYPODACTYLIA SYNDROME

• Total or partial absence of tongue

• Micrognathia

• High arched or cleft palate

• Hypertrophy of sublingual gland

• Hypodactylia and hypomelia


Blepharocheilodontic syndrome


• Eye abnormalities –

lagophthalmos

• Ectropion of lower eye lid

• Distichiasis of upper eyelid

• Bilateral cleft lip and palate

• Oligodontia and microdontia


Oto palatal digital syndrome

• Disorder - skeletal dev

• Mutations of FLNA gene - protein filamin A, which

helps build the network of protein filaments

(cytoskeleton) that gives structure to cells

• Allows them to change shape


• Face : prominent supraorbital ridge

• Frontal bossing

• Hypertelorism

• Congenital deafness

• Oral : cleft palate

• Micrognathic mandible

• Bone dysplasia


Larsen syndrome

• Larsen syndrome is a disorder that affects the

development of bones throughout the body

• Mutations in the FLNB gene - protein called filamin B -

build the network of protein filaments (cytoskeleton)

• Gives structure to cells and allows them to change

shape


• Usually born with inward- and

upward-turning feet (clubfeet)

• Dislocations of the knees, and elbows.

• small extra bones in their wrists

and ankles that are visible on x-ray

images.

• The tips of their fingers, especially the

thumbs, are typically blunt and square-

shaped (spatulate).


• Prominent forehead (frontal bossing)

• ocular hypertelorism

• Flattening of the bridge of the nose

• midface hypoplasia

• cleft palate

• respiratory problems as a result of weakness of the

airways that can lead to partial closing, short pauses in

breathing (apnea)

• Respiratory infections..


Patau syndrome• Trisomy 13 syndrome

• Most fetuses with Patau syndrome (64% from the 2nd

trimester onwards) are miscarried spontaneously

• holoprosencephaly (the failure of the forebrain to develop

into two hemispheres)

• Microphthalmia (small eye)

• cleft lip and palate, and polydactyly

• Cardiac malformations occur

• Severe growth, mental retardation

Syndromes associated with high

arched palate



High arched palate

• Apert syndrome

• Treacher collins syndrome

• Cleidocranial dysplasia

• Van derwoude syndrome

• Stickler syndrome

• Mohr syndrome


• Downs syndrome

• Edwards syndrome

• Turners syndrome

• Marfan syndrome

• Bowen

• Whistling face

• Pfeiffer syndrome

• Saethre – chotzon syndrome


Marfan syndrome

• Marfan – achard syndrome

• Arachnodactyly


• Mutations of FBN1 gene

• Codes for connective tissue protein , fibrin, collagen,

elastin, hyaluronic acid

• Abnormalities in protein – musculo skeletal, cardiac,

ocular problems


• Incidence 1 in 5000, 10,000

• Skeleton : arachynodactyly

• Dolicostenomelia ( long limbs relative to trunk length)

• Hyper extensibility of joints

• Habitual dislocations

• Kyphosis, flat feet

• Thoracolumbar scoliosis

• CVS : aortic dilatation, regurgitation , aneurysms, MVP


• OCULAR : myopia, cataracts, retinal detachment

• Shape of skull & face : long , narrow

• High arched palatal vault

• Bifid uvula

• Multiple odontogenic cysts of maxilla & mandible

• Temporomandibular dysarthrosis


Downs syndrome

• Trisomy 21, mongolism, congenital acromicria

syndrome

• Form of MR, associated with characteristic

morphological features ( mongolism)

• Many somatic abnormalities due to chromosomal

abberations

• Down – 1866

• 95 % cases – trisomy 21 ( 47 chromosomes)


• Most common

• No gender predilection

• MR ( IQ 25 – 50)

• Brachycephalic, broad, short neck

• Flat face, hypertelorism

• Narrow, upward, outward slanting of palpebral

fissures

• Medial epicanthal fold, strabismus, cataract

• Small, mishapen ears


• Skeletal : short stature, broad , short hands

• Clinodactyly of fifth finger

• Joint laxity

• Wide gap between first & second toes

• Atlanto – occipital instability

• Muscle hypotonia in new borns

• Decreased response to normal stimuli

• Protuberant abdomen with/without umbilical hernia


• Hypogenitalism, hypospadia

• Delayed & incomplete puberty

• Congenital defects of heart, endocardial defects

• Duodenal atresia

• Syndactyly, polydactyly

• Oral: small mouth, macroglossia

• Scrotal tongue, geographic tongue

• High arched palate


• Hypoplasia of maxilla

• Delayed eruption of tooth

• Partial anodontia

• Enamel hypoplasia

• Fissuring & thickening of lips

• Angular cheilitis

• Juvenile periodontitis


Turners syndrome

• Instead of the normal XX sex chromosomes for a female,

only one X chromosome is present

• fully functional - monosomy

• Short stature, webbed neck, renal disorders and sexual

infantilism

• Oral features

• Micrognathia, High arched palate

• Premature eruption of teeth

• Pulling down of corners of mouth


Pfeiffer syndrome

• Acrocephalo syndactyly 5/ Noack syndrome

• Related to FGFR gene

• Coronal cranio synostosis

• Bulging, wide set eyes, Hypertelorism

• Anti – mongoloid palpebral fissures

• Mid face hypoplasia

• Short , broad thumb , big toes, syndactyly

• High arched palate


Other Syndromes associated

with paralysis of palate


• Mobius syndrome

• Middle fossa syndrome

• Jugular foramen syndrome


Mobius syndrome

• Congenital facial diplegia

• Due to degeneration of affected cranial nerve nuclei

• Partial / complete facial paralysis – lack of facial expression – when crying/

laughing

• Failure to close eyes during sleeping, Difficulty in mastication

• Saliva – drools from corner of mouth

• Speech – severely impaired

• Deafness, paresis of muscles of soft palate, tongue, jaw muscles

• Club foot, mental defects, epilepsy

•


Jugular foramen syndrome

• Vernets syndrome

• Mostly due to lesions in jugular foramen

• Paralysis of 9th to 11th cranial nerves

• Loss of taste sensation (IX)

• Paralysis & anaesthesia of vocal cords, palate (X)

• Ipsilateral trapezius & sternocleido mastoid muscle

weakness & atrophy ( XI)


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