Albright's syndrome

Unknown

Severe disturbance of body tissues, 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

BlockSulzberger 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

CaffeySilverman syndrome

 Unknown etiology Thought to be embryonal osteodysgenesis following 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 the body, 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 occurring without 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

High arched palate 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 keratocyst cysts 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., hypogonadism in 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 defective collagen organization

 High arched palate 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 and frequent dislocations

Kyphosis. or scoliosis Flat foot Cardiovascular complications

PapillonLefevre 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, resulting in 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 mesoderm at 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 of posterior neck

Webbing

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, macroglossia gigantism)

 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-WeberRendu syndrome (Hereditary hemorrhagic telangiectasia)

 Autosomal dominant inheritance

 Telengiectatic mucocutaneous lesions over lips, tongue, nasal mucosa, face, and ears

 Lesions (vascular ectasia) in conjunctivae, 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 branchial arch I (zygoma, maxilla, trigeminal nerve, upper part of external ear, parotid) and branchial arch II (temporal bone, external + middle ear, facial nerve, muscles of facial expression) Macrostomia, skin tags from tragus to oral commissure

Melkerson-Rosenthal syndrome

 Chronic swelling of the face Facial nerve paralysis Furrowed tongue

Orofacio-digital syndrome

 Cleft palate and lip Cleft alveolar ridges Enamel abnormalities Midline cleft tongue

 Brachydactyly Polydactyly of toes

Ramsay-Hunt syndrome

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