Syndromes affecting the palate/ dental implant courses

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 syndromewww.indiandentalacademy.com

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 www.indiandentalacademy.com

Affects 1 in 8500 births.
Etio Pathogenesis
Mandibular hypoplasia - growth
disturbance ( 7th to 11th week)
Due to multigravid pregnancy
Oligohydramnios
Uterine 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.www.indiandentalacademy.com

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 facewww.indiandentalacademy.com

• 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 head
Central depression
Widely spaced eyes
Deformed 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 www.indiandentalacademy.com

• 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)

I’m not perfect – no one is.
But I am perfectly me

Syndromes affecting the palate/ dental implant courses

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