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Albright's
syndrome
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Unknown
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• 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
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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
•
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Aldrich
syndrome
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Hereditary
disorder
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• Spontaneous bleeding of
gingiva and nose
• Palatal petechiae
• Thrombocytopenic purpura and
eczema beginning on the face
• Increased susceptibility to infection
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• 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
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Block-
Sulzberger
syndrome
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Transmitted as a
sex linked
dominant trait
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• 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
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• Pigmentation fades in few years ending in clusters of
chromatophores in upper dermis
• Local generalised baldness
• Opthalmologic lesions
• CNS involvement
• Lesions of skeletal system
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Caffey-
Silverman
syndrome
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• 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
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• 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
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Changes in other bones of thebody, e.g., clavicles, scapula,ribs similar to that of jaw occur
• Fever
• Irritability
• Pseudoparalysis
• Dysphagia
• Pleurisy
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Crouzon's
syndrome &
Apert's
syndrome
• Crouzon's syndrome is craniofacial dysostosis occurringwithout syndactyly
• Apert's syndrome is craniofacial dysostosis occurring
with syndactyly
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Genetic disorder
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• 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
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• Spina bifida
• Patient mayor may not be
mentally retarded
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Down's
syndrome
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Trisomy of
21st chromosome
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• Flat face
• Large anterior fontanelle
• Open sutures
• Small slanting eyes with epicanthal folds
• Open mouth
• Frequent prognathism
• Macroglossia
• Fissured or pebbley tongue
• High arched palate
• Malformed teeth
• Decreased caries
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• Sexual underdevelopment
• Cardiac abnormalities
• Hypermobility of joints
• Mentally retarded
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Ehlers- Danlos disorder
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Hereditary disorder of connective tissue
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• 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
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• Hyperelasticity of skin
• Skeletal abnormalities
• Ocular lesions
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Ellis Van Creveld syndrome
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• Autosomal recessive inheritance
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• 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
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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.
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Gorlin & Goltz
syndrome
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• Hereditary condition transmitted as
an autosomal dominant trait
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• Deformity and displacement of developing
teeth
• Occurrence of odontogenic keratocystcysts which frequently develops into
ameloblastoma
• Mandibular prognathism
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• 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
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Hurler's syndrome
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Disturbance of mucopolysaccharide
metabolism
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• 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
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• Progressive corneal clouding
• Hepatomegaly
• Short neck and spinal abnormalities
• Claw hand
• Short stature
• Mentally retarded
• Stiff joints
• Valvular heart disease
• Relatively short limbs
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Klinefelter
syndrome
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Extra X
chromosome
in males
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Taurodontism
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Relatively short limbs
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Marfan
syndrome
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Hereditary
disorder
characterized
by defectivecollagen
organization
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• High arched palate
• Bifid uvula
• Malocclusion
• Multiple odontogenic cysts of maxilla and mandible
• TMJ dysarthrosis
• Long narrow face
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• Excessive length of tubular bones resulting in long, thin extremities
• Spidery fingers
• Hyperextensibility of joints andfrequent dislocations
• Kyphosis. or scoliosis
• Flat foot
• Cardiovascular complications
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Papillon-
Lefevre
syndrome
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Unknown
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• Severe bone destruction
• Both deciduous & permanent
dentitions are involved
• Premature exfoliation
• Inflammatory gingival enlargement,
gingival ulceration, deep pockets
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Pierre Robin
sequence
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• Nonspecific
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• Cleft palate
• Micrognathia
• Glossoptosis
• Retrognathic mandible, resultingin bird facies
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• Heart defects
• Skeletal abnormalities
• Ocular lesions
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Scherthaner- Marie Sainton
syndrome
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• Unknown
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• 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
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• 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
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Stevens-Johnson
syndrome
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• Unknown
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• Severe bullous form of
erythema multiforme
• Involves oral cavity with painful Lesions
• Ulceration of lip
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• Bullous lesions involve skin,
eyes and genitalia apart from
the oral cavity
• Fever
• Malaise
• Photophobia
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Treacher Collins
syndrome
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• Failure of
differentiation
of maxillary
mesodermat and after
50 mm stage
of embryo
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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
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Turner's syndrome
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Missing X
chromosome
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Heart-shaped facies
Prominent ears
Webbing of posterior neck
Low posterior hairline
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• Congenital lymphedema
• Broad chest
• Hypogonadism
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Van der Woude's
syndrome
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Hereditary
congenital
malformations
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• Association of pits of lower lip
and cleft lip or cleft palate
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Beckwith-Weidmann
syndrome
(Exophthalmos,
macroglossiagigantism)
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• Unknown
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• Macroglossia
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• Exophthalmos, umbilical hernia,
hypoplasia of abdomen
• Musculature visceromegaly(Kidney, adrenals, pancreas),
hypoglycemia
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Sturge-Weber syndrome
(Encephalo
trigeminal
angiomatosis)
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• Unknown
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• Congenital capillary
hemangioma of face over
trigeminal nerve distribution
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Hemangioma of meninges,
choroid; usually unilateral
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Horner's syndrome
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Lesion of cervical
sympathetic fibres
(injury, tumour
etc.)• Congenital form
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Ptosis, miosis, anhidrosis over
ipsilateral face, enophthalmos
• Heterochromia iridis
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Osler-Weber-
Rendu syndrome
(Hereditary
hemorrhagictelangiectasia)
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• Autosomal
dominant
inheritance
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• Telengiectatic mucocutaneouslesions over lips, tongue,
nasal mucosa, face, and ears
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• Lesions (vascular ectasia) inconjunctivae, palms, larynx,
pharynx, gastrointestinal
tract, bladder, vagina,bronchi, brain, liver
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Aniridia
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Familial sporadic(associated with
Wilms' tumor)
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• Absence of iris, photophobia, nystagmus, defective vision
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• Glaucoma, corneal degeneration calaraits, optic
nerve hypoplasia, macular
degeneration
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Goldenhar syndrome(Nemitual microsomia;
Other names lateral
facial dysplasia,otomandibulo vertebral
anomaly, intrauterine
facial necrosis, first &second branchial arch
syndrome)
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• Unknown spontaneous
mutation
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• 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
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Melkerson-Rosenthalsyndrome
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• Chronic swelling of the face
• Facial nerve paralysis
• Furrowed tongue
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Orofacio-digitalsyndrome
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• Cleft palate and lip
• Cleft alveolar ridges
• Enamel abnormalities
• Midline cleft tongue
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• Brachydactyly
• Polydactyly of toes
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Ramsay-Huntsyndrome
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Cutaneous lesions -external auditory meatus
• Facial nerve paralysis
• Hearing deficit
• Vertigo
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Cowden's syndrome
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• Multiple oral mucosal papillomas
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• Palmoplantar keratosis
• Acral keratosis
• Trichilemmomas
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Ascher's syndrome
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• Double lip
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• Blepharochalasis
• Non-toxic thyroid
enlargement
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