Syndromes in Oral Medicine and Radiology

Syndromes in Oral Medicine and Radiology

Related to bone and joint diseases

Crouzon Syndrome (or) Craniofacial Dysostosis:

§  Prognathic mandible

§  Hypoplastic maxilla

§  High arched palate

§  Parrot beak appearance

§  Hypertelorism

Apert Syndrome:

§  Syndactyly involving hands and feet – mitten hands and soc feet

§  It has many features similar to Crouzon syndrome

Treacher Collins Syndrome or Mandibulofacial Dysostosis:

§  Hypoplasia of mandible and malar bone

§  Macrostomia

§  High arched palate

§  Malformation of external ear

§  Bird or fish like face

§  Antimongoloid slant with coloboma of lower eyelids

Pierre Robin Syndrome:

§  Cleft Palate

§  Micrognathia

§  Glossoptosis

Marfan Syndrome:

§  Bifid Uvula

§  Long thin extremities

§  hyper extensibility of joints

§  Spidery fingers

§  Arachnodactyly

§  CVS complications

Down’s Syndrome (Trisomy 21)

§  Hypermobility

§  Macroglossia

§  Flat face

§  Large anterior frontanelle

§  Sexual under development

§  Cardiac abnormalities

Van Buchem Syndrome:

§  Generalised cortical hyperostosis

Gorham Syndrome:

§   Massive Osteolysis

§  Vanishing bone

Albright Syndrome:

§  Precocious puberty

§  Polystotic fibrous dysplasia

§  Cafe-au-lait pigmentation

Caffey Silverman Syndrome:

§  Infantile hyperostosis

§  Dysphagia

§  Hyperirritability

§  Increased alkaline phosphatase

Costen Syndrome:

§  Burning tongue

§  Tinnitus

§  Otalgia

§  Headache

§  Diziness

Myofacial Pain Dysfunction Syndrome:

§  Masticatory muscle tenderness

§  Limitation of motion

§  Clicking or propping noise

Syndromes related to Benign and Malignant Tumors of the Oral Cavity

Cowden’s Syndrome: 

§  Oral Papillomatous lesions

§  Facial Trichilemmomas

§  GIT, Thyroid, CNS Abnormalities

B-K Mole Syndrome:

§  Large pigmented lesion

§  high risk of development of Melanoma

MEN – I (Multiple Endocrine Neoplasia Syndrome):

§  Hyperplasia of Pituitary parathyroid, adrenal cortex and pancreatic islets.

MENS – II (Sipple Syndrome):

§  Parathyroid hypoplasia

§  Pheochromocytoma

§  Medullary carcinoma of thyroid

Syndromes related to Developmental Disturbances

Parry-Romberg Syndrome:

§  Facial Hemiatrophy

Vander Woude’s Syndrome:

§  Pits of Lower lip and cleft of palate

Ascher’s Syndrome:

§  Acquired double lip

§  Blepharochalasis

§  Non toxic thyroid enlargement.

Oro Facial Digital Syndrome:

§  Cleft tongue

§  Clefting of Mandibular alveolar process

Median Cleft Face Syndrome:

§  Median cleft of Pre Maxilla and palate

§  Cranium bifidum occultum

Meischer’s Syndrome:

§  Chelitis granulomatosa

Melkerson Rosenthal Syndrome:

§  Chelitis granulomatosa

§  Facial paralysis

§  Scrotal Tongue

Peutz Jeghers Syndrome:

§  Multiple intestinal Polyposis

§  Pigmentation of Face, Oral cavity and hands.

Beckwith-Wiedeman Syndrome (or) Beckwith’s Hypoglycemic Syndrome:

§  Macroglossia

§  Neonatal hypoglycemia

§  Microcephaly

§  Facial Visceromegaly

Rubinstein Taybi Syndrome:

§  Talon’s Cusp

§  Developmental retardation

§  Broad thumbs

§  Great toes

§  Delayed or incomplete descent of testes

Klenefelter Syndrome (Trisomy 46):

§  Taurodontism

§  XXY genetic constitution

Gardner’s Syndrome:

§  Impacted Supernumerary teeth

§  Multiple Polyposis of large intestine

§  Osteomas of Bone

§  Multiple Sebaceous Cysts

LADD Syndrome:

§  Peg shaped teeth

§  Hypodontia

§  Enamel Hypoplasia

§  Clinodactyly

§  Auricles are deformed with ear having a cusp shaped appearance

§  lacrimal apparatus involvement with lacrimal sac inflammation

Syndromes related to Salivary Gland tumors:

Sjogren’s Syndrome:

§  Xerostomia

§  Keratoconjunctivitis

§  Rheumatoid Arthritis

Syndromes related to Cysts and Tumors of Odontogenic Origin:

Gorlin Goltz Syndrome or Jaw Cyst Basal nevus – Bifid Rib Syndrome:

§  Multiple Odontogenic Keratocysts

§  Basal cell carcinoma

§  Bifid Rib

§  Neurological, Opthalmologic and sexual abnormalities

Syndromes related to Bacterial, Viral and Mycotic infections.

Heerfordt Syndrome:

§  Uveoparotid fever

Behcet’s Syndrome:

It has a charecteristic traid of symptoms:

§  Recurrent Oral Ulcers

§  Genital Ulcers

§  Ocular inflammation

Reiter’s  Syndrome:

§  Oral ulcers

§  Urethritis

§  Arthritis

§  Conjunctivitis

Ramsay Hunt’s Syndrome:

§  Herpes zoster infection of the geniculate ganglion

§  External ear and oral mucosa are also involved

Syndromes related to disease of blood

Fanconi Syndrome:

§  Aplastic anaemia

§  Microcephaly

§  Hypogenitalism

§  Olive brown pigmentation

Plummer Vinson Syndrome:

It is charecterised by a triad of diseases-

§  Iron Deficiency Anemia

§  Carcinoma of Hypopharynx

§  Koilonychia

Aldrich Syndrome:

§  Thrombocytopenic purpura

§  Eczema

§  Increased susceptibility to infection

Chediak Higashi Syndrome:

§  Malignant Lymphoas

§  Gingivitis

§  Glossitis

§  Albinism

§  Nystagmus

§  Recurrent infections

§  Photophobia

Kostmann Syndrome:

§  Severe Congenital Neutropenia

Syndromes related to Diseases Of Periodontium:

Papillon Lefevre Syndrome:

§  Juvenile periodontitis

§  Palmar plantar keratosis

§  Calcification of falxcerebri

Syndromes related to Skin Diseases

Steven Johnson Syndrome:

§  Severe bullous form of Erythema multiforme

§  Erythema Multiforme involves skin, eyes, Oral Cavity and genitalia.

Crest Syndrome:

§  Calcinosis Cutis

§  Raynauds phenomenon

§  Esophageal dysfunction

§  Sclerodactyly

§  Telangiectasia

Ehler Danlos Syndrome:

§  Hyperextension of joints

§  Hyper mobility of TMJ (Rubberman)

Goltz Gorlin Syndrome:

§  Multiple papillomas

§  Atrophy of skin

§  Polydactyly

§  Sunken eye

§  Sparse hair

Grinspan’s syndrome:

Characterized by the  triad of

§  Lichen planus

§  Vascular Hypertension

§  Diabetes Mellitus