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