Common Craniofacial Syndromes

8/22/2019 Common Craniofacial Syndromes

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Albright's

syndrome



Unknown



• Severe disturbance of bodytissues, usually the mandible

• Expansion & deformity of jaws

• Eruption pattern of the teeth is disturbed

• Intraoral pigmentation in some cases

• On radiograph the jaw bone appears

as multilocular radiolucencies

• The cortical bone appears thin and expanded



Recurrent bone pain

• Bony asymmetry and pathological fractures

• Cafe'au-lait spots on skin

• Precocious puberty in females

• Disturbance of endocrine system

• Multiple intramuscular soft tissue myxomas

•



Aldrich

syndrome



Hereditary

disorder



• Spontaneous bleeding of

gingiva and nose

• Palatal petechiae

• Thrombocytopenic purpura and

eczema beginning on the face

• Increased susceptibility to infection



• Thrombocytopenic purpura,

eczema, petechiae of the skin

• Increased susceptibility to infection

results in boils, otitis media, bloody

diarrhea and respiratory infections

• Occurrence of Iymphoreticular

malignant neoplasm



Block-

Sulzberger

syndrome



Transmitted as a

sex linked

dominant trait



• Restricted to teeth and involves both deciduous and permanent

Dentition

• Delayed tooth eruption

• Peg or cone shaped tooth crowns

• Congenitally missing teeth

• Malformed teeth

• Additional cusps



• Pigmentation fades in few years ending in clusters of

chromatophores in upper dermis

• Local generalised baldness

• Opthalmologic lesions

• CNS involvement

• Lesions of skeletal system



Caffey-

Silverman

syndrome



• Unknown etiology

• Thought to be embryonal osteodysgenesisfollowing local defect in

blood supply to the area

• Allergic phenomenon

• It could also result because of heredity

• Genetic disorder



• Mandibular bone is usually affected

• Jaw involvement manifests as facial swelling

• Soft tissue swellings are associated with deep muscles, generally in

the areas of bony involvement, e.g., scalp, face, neck

• Residual asymmetric deformity of the mandible

• Severe malocclusion

• Radiographically unilateral or bilateral thickening and sclerosis of the

cortex is seen

• Hyperostosis lags behind

clinical swelling of soft tissues



Changes in other bones of thebody, e.g., clavicles, scapula,ribs similar to that of jaw occur

• Fever

• Irritability

• Pseudoparalysis

• Dysphagia

• Pleurisy



Crouzon's

syndrome &

Apert's

syndrome

• Crouzon's syndrome is craniofacial dysostosis occurringwithout syndactyly

• Apert's syndrome is craniofacial dysostosis occurring

with syndactyly



Genetic disorder



• Protuberant frontal region

• Triangular frontal defect

• Hypoplasia of maxilla

• High arched palate

• Cleft in some cases

• Exaggerated facial angle

• Mandibular prognathism

• Parrot's beak appearance of the patient's nose

• Associated eye changes, e.g., hypertelorism, strabismus, blindness











• Spina bifida

• Patient mayor may not be

mentally retarded



Down's

syndrome



Trisomy of

21st chromosome



• Flat face

• Large anterior fontanelle

• Open sutures

• Small slanting eyes with epicanthal folds

• Open mouth

• Frequent prognathism

• Macroglossia

• Fissured or pebbley tongue


• Malformed teeth

• Decreased caries



• Sexual underdevelopment

• Cardiac abnormalities

• Hypermobility of joints

• Mentally retarded



Ehlers- Danlos disorder



Hereditary disorder of connective tissue



• Fragile oral mucosa

• Retarded healing of mucosa

• Bleeding following tooth brushing

• Hypermobility of TMJ with repeated dislocations

• Altered tooth structure with lack of normal scalloping at DEJ,pulp stones, extensive periodontal destruction

• Frontal bossing • Wide nasal bridge

• Hypertelorism



• Hyperelasticity of skin

• Skeletal abnormalities

• Ocular lesions



Ellis Van Creveld syndrome



• Autosomal recessive inheritance



• Fusion of midline portion of upper lip to

maxillary gingiva eliminating mucolateral sulcus.

• Natal teeth

• Prematurely erupted deciduous teeth

• Congenital absence of teeth

• Cone shaped hypoplastic teeth

• Supernumerary teeth

• Depressed nasal bridge

• Presence of multiple frenula tethering upper lip

to gingiva & double frenula in lower lip

• Teeth with taurodontism







Number of ectodermal disorders

present with involvement

of nails, chondrodysplasia,

polydactyly and heart diseases

• Lower limbs are deformed due to mesomorphic

shortening with knock- knees.



Gorlin & Goltz

syndrome



• Hereditary condition transmitted as

an autosomal dominant trait



• Deformity and displacement of developing

teeth

• Occurrence of odontogenic keratocystcysts which frequently develops into

ameloblastoma

• Mandibular prognathism



• Cutaneous abnormalities like basal cell carcinoma

and dermal cyst.

• Osseous abnormalities, e.g., rib anomalies• Ophthalmologic abnormalities

• Neurologic abnormalities, e.g.,

mental retardation

• Sexual anomalies, e.g., hypogonadismin males and ovarian tumors



Hurler's syndrome



Disturbance of mucopolysaccharide

metabolism



• Large head

• Prominent forehead

• Saddle nose

• Wide nostrils

• Shortening and broadening of mandible with prominent gonion

• Spacing of teeth

• Localized destruction of bone

• Gingival hyperplasia

• Enlarged tongue







• Progressive corneal clouding

• Hepatomegaly

• Short neck and spinal abnormalities

• Claw hand

• Short stature

• Mentally retarded

• Stiff joints

• Valvular heart disease

• Relatively short limbs



Klinefelter

syndrome



Extra X

chromosome

in males



Taurodontism



Relatively short limbs



Marfan

syndrome



Hereditary

disorder

characterized

by defectivecollagen

organization




• Bifid uvula

• Malocclusion

• Multiple odontogenic cysts of maxilla and mandible

• TMJ dysarthrosis

• Long narrow face



• Excessive length of tubular bones resulting in long, thin extremities

• Spidery fingers

• Hyperextensibility of joints andfrequent dislocations

• Kyphosis. or scoliosis

• Flat foot

• Cardiovascular complications



Papillon-

Lefevre

syndrome



Unknown



• Severe bone destruction

• Both deciduous & permanent

dentitions are involved

• Premature exfoliation

• Inflammatory gingival enlargement,

gingival ulceration, deep pockets



Pierre Robin

sequence



• Nonspecific



• Cleft palate

• Micrognathia

• Glossoptosis

• Retrognathic mandible, resultingin bird facies





• Heart defects

• Skeletal abnormalities

• Ocular lesions



Scherthaner- Marie Sainton

syndrome



• Unknown



• Abnormalities of skull, teeth and jaws

• Delayed closure of fontanelles

• High, narrow arched palate

• Cleft palate

• Underdeveloped maxilla

• Prolonged retention of deciduous teeth and subsequent delay in eruption of succedaneous teeth

• Roots of teeth are short and thinner than usual and may be deformed

• Cementum is absent

• Unerupted supernumerary teeth are present



• Deformity of shoulder girdle and long bones

• Partial absence or thinning of one or both the clavicles

• Defects of vertebral column, pelvis,

bones of digits

• Anomalous muscle



Stevens-Johnson

syndrome



• Unknown



• Severe bullous form of

erythema multiforme

• Involves oral cavity with painful Lesions

• Ulceration of lip



• Bullous lesions involve skin,

eyes and genitalia apart from

the oral cavity

• Fever

• Malaise

• Photophobia



Treacher Collins

syndrome



• Failure of

differentiation

of maxillary

mesodermat and after

50 mm stage

of embryo



Macrostomia

• High palate

• Cleft palate

• Blind fistulas between ears and angles of mouth

• Bird or fish like facies• Hypoplasia of facial bones especially

malar bones and mandible



Turner's syndrome



Missing X

chromosome



Heart-shaped facies

Prominent ears

Webbing of posterior neck

Low posterior hairline





• Congenital lymphedema

• Broad chest

• Hypogonadism



Van der Woude's

syndrome



Hereditary

congenital

malformations



• Association of pits of lower lip

and cleft lip or cleft palate



Beckwith-Weidmann

syndrome

(Exophthalmos,

macroglossiagigantism)



• Unknown



• Macroglossia



• Exophthalmos, umbilical hernia,

hypoplasia of abdomen

• Musculature visceromegaly(Kidney, adrenals, pancreas),

hypoglycemia



Sturge-Weber syndrome

(Encephalo

trigeminal

angiomatosis)



• Unknown



• Congenital capillary

hemangioma of face over

trigeminal nerve distribution



Hemangioma of meninges,

choroid; usually unilateral



Horner's syndrome



Lesion of cervical

sympathetic fibres

(injury, tumour

etc.)• Congenital form



Ptosis, miosis, anhidrosis over

ipsilateral face, enophthalmos

• Heterochromia iridis



Osler-Weber-

Rendu syndrome

(Hereditary

hemorrhagictelangiectasia)



• Autosomal

dominant

inheritance



• Telengiectatic mucocutaneouslesions over lips, tongue,

nasal mucosa, face, and ears



• Lesions (vascular ectasia) inconjunctivae, palms, larynx,

pharynx, gastrointestinal

tract, bladder, vagina,bronchi, brain, liver



Aniridia



Familial sporadic(associated with

Wilms' tumor)



• Absence of iris, photophobia, nystagmus, defective vision



• Glaucoma, corneal degeneration calaraits, optic

nerve hypoplasia, macular

degeneration



Goldenhar syndrome(Nemitual microsomia;

Other names lateral

facial dysplasia,otomandibulo vertebral

anomaly, intrauterine

facial necrosis, first &second branchial arch

syndrome)



• Unknown spontaneous

mutation



• Underdevelopment of branchialarch I (zygoma, maxilla,

trigeminal nerve, upper part of external ear, parotid) and

branchial arch II (temporal bone,external + middle ear, facialnerve, muscles of facial

expression)

• Macrostomia, skin tags fromtragus to oral commissure





Melkerson-Rosenthalsyndrome



• Chronic swelling of the face

• Facial nerve paralysis

• Furrowed tongue



Orofacio-digitalsyndrome



• Cleft palate and lip

• Cleft alveolar ridges

• Enamel abnormalities

• Midline cleft tongue



• Brachydactyly

• Polydactyly of toes



Ramsay-Huntsyndrome



Cutaneous lesions -external auditory meatus

• Facial nerve paralysis

• Hearing deficit

• Vertigo



Cowden's syndrome



• Multiple oral mucosal papillomas



• Palmoplantar keratosis

• Acral keratosis

• Trichilemmomas



Ascher's syndrome



• Double lip



• Blepharochalasis

• Non-toxic thyroid

enlargement













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Common Craniofacial Syndromes