List of Medical Syndromes and their Important Features

1. Developmental Disturbances
Syndrome Important Features
Parry Romberg's 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 nd clefting of mandibular alveolar process
Median Cleft Face Syndrome
Hypertelorism + Median cleft of premaxilla, palate + Cranium bifidum occultum
Meischer's Syndrome
Cheilitis granulomatosa
Melkerson-Rosenthal Syndrome
Cheilitis granulomatosa + Facial Paralysis + Scrotal Tongue
Peutz-Jeghers Syndrome
Multiple Intestinal Polyposis + Pigmentation on face , oral cavity, and hands
Beckwith's Hypoglycemic Syndrome OR Beckwith-Wiedeman syndrome
Macroglossia + Neonatal Hypoglycemia + Microcephaly + Fetal Visceromegaly
Rubinstein-Taybi Syndrome Talon's Cusp + Developmental retardation + Broad thumbs + great toes + Delayed or incomplete descent of testes
Klinefelter Syndrome Taurodontism, XXY genetic constitution
Gardner's Syndrome Multiple polyposis of large intestine + Osteomas of bone + Multiple sebaceous cysts + Impacted supernumerary teeth
LADD  syndrome
  • Lacrimal apparatus involved with lacrimal sac inflammation and lacrimal gland aplasia
  • Auricles are deformed with the ear having a cup shaped appearance
  • Dental involvement like peg shaped teeth, hypodontia, and enamel hypoplasia
  • Digital deformities like deviation of fingers medially or laterally (Clinodactyly)


2. Benign and Malignant Tumors
Syndrome  Important Features
Cowden's Syndrome Oral papillomatous lesions + Facial trichilemmomas associated with GIT, thyroid and CNS abnormalities
B-K mole syndrome Large pigmented and high risk for development of melanoma
MEN - I ( Multiple Endocrine Neoplasia Syndrome ) Hyperplasia of pituitary, parathyroid, adrenal cortex, pancreatic islets
MEN - II ( Sipple Syndrome ) Parathyroid Hypoplasia + Pheochromocytoma + medullary carcinoma of thyroid

3. Salivary gland tumors and Cysts and Tumors of odontogenic origin
Syndrome Features
Sjogren's Syndrome Keratoconjunctivitis Sicca + Xerostomia + Rheumatoid arthritis
Gorlin - Goltz Syndrome or Jaw cyst - Cell Nevus - Bifid rib Syndrome
Multiple odontogenic keratocysts + basal cell carcinoma + bifidd basal rib + Neurologic, ophthalmologic and  sexual abnormalities


4. Bacterial, Viral, and Mycotic Infections
Syndromes Features
Heerfordt syndrome Uveoparotid fever
Behcet's syndrome Behcet's syndrome is characterized by triad of : Recurrent oral ulcers, recurrent genital ulcers, and ocular inflammation 
Reiter's Syndrome Tertad of urethritis + Arthritis + Conjunctivitis + Oral Ulcers
Ramsay Hunt Syndrome Herpes Zoster infection on the geniculate  ganglion, with involvement of the external ear and oral mucosa

5. Diseases of Bones and Joints
Syndrome Important Features
Crouzon Syndrome / Craniofacial Dysostosis Prognathic mandible, hypoplastic maxilla, high arched palate, parrot beak appearance and hypertelorism
Apert Syndrome Syndactyly involving hands and feet (known as mitten hands and sock feet) with features similar to Crouzon Syndrome.
Treacher - Collins Syndrome / Mandibulofacial dysostosis (Franschetti Syndrome) Hypoplasia of mandible and malar bone, macrostomia, OR malformation of  external ear, high arched palate , bird or fish like face and antimongoloid slant with coloboma of lower eyelids
Pierre Robin Syndrome Cleft palate + Micrognathia + Glossoptosis
Marfan Syndrome Long thin extremeties, hyper extensibility of joints, spidery fingers (arachnodactyly), bifid uvula and CVS complications
Down Syndrome (Trisomy 21, Mongolism)
Hypermobility, macroglossia, flat face, larger anterior fontannelle, sexual underdevelopment and cardiac abnormalities
Van Buchem Syndrome Generalised cortical hyperostosis
Gorham Syndrome Massive osteolysis or vanishing bone
Albright syndrome Precocious puberty + Polyostotic fibrous dysplasia + Cafe-au-lait pigmentation
Caffey - Silverman Syndrome Infantile Hyperostosis, dysphagia, hyperirritability, increased alkaline phosphatase
Costen Syndrome Tinnitus, Otalgia, headache, dizziness, burning tongue, and throat
Myofacial Pain Dysfunction Syndrome Masticatory muscle tenderness + Pain + Limitation of motion + Clicking or popping noise


6. Diseases of Blood
Syndromes  Important Features
Fanconi Syndrome Aplastic anemia, Microcephaly, Hypogenitalism and olive brown pigmentation
Plummer Vinson Syndrome Characterized by triad of iron deficiency anemia, carcinoma of hypopharynx (post cricoid carcinoma) and koilonychia (spoon shaped nails)
Aldrich Syndrome Thrombocytopenic purpura, eczema and increased susceptibility to infection
Chediak-Higashi Syndrome Malignant lymphomas, albinism, nystagmus, recurrent infections, photophobia, gingivitis, glossitis
Kostmann Syndrome Severe congenital neutropenia

7. Disease of Periodontium
Syndrome Important Features
Papillon - Lefevre Syndrome Juvenile Periodontitis + Palmar plantar keratosis + Calcification of falx cerebri

8. Skin Diseases
Syndromes Important Features
Steven Johnson Syndrome Severe bullous form of erythema multiformae involving skin, eyes, oral cavity and genitalia
CREST syndrome
  • Calcinosis Cutis
  • Raynaud's Phenomenon
  • Esophageal dysfunction
  • Sclerodactyly, &
  • Telangiectasia
Ehler Danlos Syndrome Hyperextension of joints (Rubberman) , Hypermobility of TMJ 
Goltz-Gorlin Syndrome (Focal Dermal Hypoplasia) Multiple papillomas + Atrophy of skin + Polydactyly + Sunken eye + Sparse hair
Grinspan Syndrome Characterized by triad of Lichen planus + Vascular hypertension + Diabetes Mellitus

9. Diseases of Nerves and Muscles 
Syndromes  Important Features
Reader's Syndrome (Paratrigeminal Syndrome) Severe headache + Signs of ocular sympathetic paralysis
Auriculotemporal syndrome (Frey's Syndrome) Gustatory sweating
Horner's Syndrome Ptosis + Miosis + Anhidrosis + Vasodilation
Jaw Winking Syndrome Ptosis + Rapid elevation of the ptotic occuring on movement of the mandible to the contralateral side
Trotter's Syndrome Tumors of the nasopharynx producing pain similar to trigeminal neuralgia and middle ear deafness
Eagles Syndrome Dysphagia (Pain during mandibular movement and the pain is subsided when the jaws are closed) , sore throat, otalgia and glossodynia.
Floppy Infant Syndrome Generalised weakness due to hypotonia, Inability to sit, stand and walk
Mobius Syndrome Partial / Complete facial paralysis, drooling of saliva, difficulty in mastication and congenital facial diplegia
Horton's Syndrome Vascular Headache

10. Oral Aspects of Metabolic Disease
Syndromes Important Features
Cushing's Syndrome Hyperadrenocorticism (excessive secretion of ACTH hormone)
Hurler's Syndrome / Gargoylism Carbohydrste storage disease, Mucopolysaccharidosis (MPS)
Hunter syndrome MPS-II
Waterhouse - Friderichsen Syndrome Acute adrenal insufficiency in connection with acute septicemia

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