Term
| Crouzon's Disease(Craniofacial Dysostosis) |
|
Definition
Premature suture closing
Frontal bossing
Short head (brachycephaly)
Hypoplastic maxilla |
|
|
Term
| Treacher Collins Syndrome (Mandibulofacial Dysostosis) |
|
Definition
Bird-like face
Side burns & ears assymmetrical
Mandibular micrognathia
Deaf, smart
--Ears can also be misplaced
Depressed cheeks (zygomatic atrophy)
Notched eyelids and downward slanting |
|
|
Term
| Osteogenesis Imperfecta (Lobstein’s Disease) |
|
Definition
Path. Bone fractures
Blue sclera & osteosclerosis
Dentinogenesis imperfecta in 80%
Hearing loss (micromalia) |
|
|
Term
|
Definition
Retain primary teeth, supernumerary teeth
Small maxilla
Cementum problems
MISSING CLAVICLE
---can put shoulders together |
|
|
Term
|
Definition
Cleft palate
Mandibular Micrognathia
Glossoptosis |
|
|
Term
|
Definition
Abnormally soluble collagen
High palate, bifid uvula
Odontogenic cysts, malocclusion
Tall, skinny (long bones) |
|
|
Term
|
Definition
Broad face
Retruded maxilla
Macroglossia
Simeon line |
|
|
Term
|
Definition
Loss of sight, hearing
NO bone resorption
Anemia (bone marrow fills in)
Enamel hypoplasia
Fractures from extractions |
|
|
Term
|
Definition
Dwarfism
Retruded maxilla, malocclusion
Brachycephaly |
|
|
Term
|
Definition
syndactly: fingers and toes are fused together
Tower skull
Cleft palate/uvula
Gingival thickening
----delayed eruption
Has mental retardation |
|
|
Term
| Massive Osteolysis (Phantom Bone Disease) |
|
Definition
Rare
Progressive destruction of bone (may affect any bone in body)
Bone replaced by vascular tissue, then filled in by fibrous tissue
Etiology - unknown
30% of cases of maxillofacial bone involved
Teeth mobile and bone fracture
Limited treatment (possible radiation, bone grafts and implants) |
|
|
Term
| Hereditary Benign Intraepithelial Dyskeratosis (Witkop's Disease) |
|
Definition
Rougated tongue, buccal & palate
Childhood
Oral lesion (buccal mucosa)
---resemble white sponge nevus
Eye lesions (foamy gelatinous plaques)
North Carolina (native American, black and white) |
|
|
Term
|
Definition
Focal keratosis on knees,elbows, palms
Thick fingernails
---excess keratin
Constant sweating
White plaques on dorsal surface of tongues |
|
|
Term
|
Definition
GI Polyps
Osteomas
Supernumerary teeth
Increased thyroid carcinoma |
|
|
Term
|
Definition
Melanotic spots on buccal, gingiva, palate, face
GI polyps (intrassusception) |
|
|
Term
| Multiple Hereditary Telangiectasia |
|
Definition
Petechiae & red spots all over body
Anemia |
|
|
Term
| Sturge-Weber Angiomatosis (Syndrome) |
|
Definition
Hemangioma of skin & bone in trigeminal nerve area (Port wine stain)
convulsions |
|
|
Term
| Basal Cell Nevus Syndrome (Nevoid Basal Cell Carcinoma Syndrome) |
|
Definition
Basal cell nevi
Jawbone cysts
Bifid ribs
Eye, neurologic, & sexual disorders
Pits on their hands |
|
|
Term
| Hereditary Ectodermal Dysplasia |
|
Definition
Problems with ectoderm
Hyperpigmentation around the eyes
No sweat glands xerostomia and heat intolerance
Complete or partial adontia
Multiple papillary areas on skin and MOUTH (gingiva tissue)
Increase in malignany!! (breast cancer, thyroid adenomas, etc) |
|
|
Term
| Von Recklinghausen's Disease of Skin (Hereditary Multiple Neurofibromatosis) |
|
Definition
Sessile & pedulated neurofibromas
Café-au-lait spots
May have MLG transformation
(sarcoma!!) |
|
|
Term
| Cowden Syndrome (Multiple Hamartoma Syndrome) |
|
Definition
Wart areas on the hand
Calluses on hand and feet |
|
|
Term
|
Definition
Production of abnormal collagen
Abnormal joints (rubber man)
Scarringlooks like crumpled cig paper |
|
|
Term
| Papillon-Lefevre Syndrome |
|
Definition
Advanced periodontal disease! Starts with 6yr molar early loss of teeth (~14y.o.)
Starts at age 3
Hyperkeratosis of hands and feet |
|
|
Term
|
Definition
|
|
