| When fibrous dysplasia occurs in jaw, there is bilateral swelling of the angle of the jaw | CHERUBISM |
| Accompanied by upturned eyes from facial fibrous dysplasia, gives a cherubic look to the face | CHERUBISM |
| Mutations in the _____ gene have been identified in about 80 percent of people with cherubism | SH3BP2 |
| Abnormal growth of tissue in normal bone seen along the angle of the jaw. | CHERUBISM |
| The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often mistakenly described as cherubs | CHERUBISM |
| Autosomal dominant condition; Microscopically is a giant cell lesion (overgrowth of tissue) | CHERUBISM |
| Self-limiting, stabilizes after puberty; Characteristic perivascular collagen condensation sometimes present | CHERUBISM |
| Symmetric, asymptomatic swelling of the jaws; Symmetric outgrowth of tissue within the jaw area which makes rounded to square type of face. | CHERUBISM |
| Painless symmetric enlargement of the posterior region of the mandible with expansion of the alveolar process and ascending ramus; Since there is swelling and enlargement of the jaw it will result to masticatory speech and swallowing difficulties for the patient. | CHERUBISM |
| Soap bubble radiolucencies | CHERUBISM |
| It is an extremely rare inherited disorder whereby the bones harden, becoming more denser (the bone becomes more brittle) | OSTEOPETROSIS |
| OSTEOPETROSIS: ETIOLOGY IS MUTATION OF | SNX10 genes |
| OSTEOPETROSIS: Also known as | marble bone disease and Albers-Schonberg disease |
| OSTEOPETROSIS can also cause | osteosclerosis |
| Sufferers of osteopetrosis have a deficiency of ___ | osteoclasts |
| More brittle than normal; Mild form may cause no symptoms, and present no problems | OSTEOPETROSIS |
| Serious forms can result in stunted growth, deformity, increased likelihood of fractures, and anemia | OSTEOPETROSIS |
| It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone | OSTEOPETROSIS |
| OSTEOPETROSIS treatment | no cure |
| OSTEOPETROSIS treatment: although ___________ is being investigated | curative therapy with bone marrow transplantation |
| OSTEOPETROSIS treatment: If complications occur or in children, patients can be treated with ___ | vitamin D |
| OSTEOPETROSIS treatment: _____ has been used to treat any associated anemia | Erythropoietin |
| OSTEOPETROSIS treatment:may alleviate both the anemia and stimulate bone resorption | Corticosteroids |
| OSTEOPETROSIS: alternative treatment as there is no cure: | bone marrow transplantation, vitamin D, erythropoietin, corticosteroids |
| OSTEOGENESIS IMPERFECTA: etiology mutation of | COL1A1 & COL1A2 genes |
| Frequent bone fractures that may begin before birth that results from little or no trauma | OSTEOGENESIS IMPERFECTA |
| Blue sclerae, short stature, hearing loss, respiratory problems | OSTEOGENESIS IMPERFECTA |
| Disorder of tooth development called dentinogenesis imperfecta | OSTEOGENESIS IMPERFECTA |
| The most severe forms of osteogenesis imperfecta | type II |
| An abnormally small, fragile rib cage and underdeveloped lungs | OSTEOGENESIS IMPERFECTA TYPE II |
| Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birth | OSTEOGENESIS IMPERFECTA TYPE II |
| CLEIDOCRANIAL DYSPLASIA:ETIOLOGY MUTATION OF | RUNX2 |
| CLEIDOCRANIAL DYSPLASIA:ALSO CALLED | Cleidocranial Dysostosis |
| A condition characterized by defective development of the cranial bones and by the complete or partial absence of the collar bones (clavicles) | CLEIDOCRANIAL DYSPLASIA |
| Delayed closure (ossification) of the space between the bones of the skull (fontanels) | CLEIDOCRANIAL DYSPLASIA |
| Premature closing of the coronal suture | CLEIDOCRANIAL DYSPLASIA |
| Protruding jaw (mandible) and protruding brow bone (frontal bossing) – (which makes the face of the patient like mango or moon shaped face) | CLEIDOCRANIAL DYSPLASIA |
| Wide nasal bridge due to increased space between the eyes - High arched palate or possible cleft palate; Short stature; Scoliosis of the spine | CLEIDOCRANIAL DYSPLASIA |
| Wide nasal bridge due to increased space between the eyes | hypertelorism |
| protruding brow bone | frontal bossing |
| CLEIDOCRANIAL DYSPLASIA: It is transmitted as an autosomal dominant trait; The cause is not yet known, but several chromosome abnormalities have been linked with this syndrome, including chromosome | 6p21 |
| THE CHILD MAY HAVE THE FOLLOWING PROBLEMS:Dental abnormalities – failure to lose the baby teeth (deciduous) at the expected time: slow eruption of secondary teeth; extra teeth; delayed or absent formation of teeth | CLEIDOCRANIAL DYSPLASIA |
| "THE CHILD MAY HAVE THE FOLLOWING PROBLEMS:Ability to touch the shoulders together in front of the body; Wide pelvic bone; Loose joints | CLEIDOCRANIAL DYSPLASIA |
| THE CHILD MAY HAVE THE FOLLOWING PROBLEMS: Hearing loss and/or frequent infections | CLEIDOCRANIAL DYSPLASIA |
| CLEIDOCRANIAL DYSPLASIA: treatment | Apply dentures over the unerupted teeth; Teeth removal as they erupt |
| CROUZON’S SYNDROME: also called | CRANIOFACIAL DYSOSTOSIS |
| CROUZON’S SYNDROME: etiology mutation of | FGFR2 gene |
| CROUZON’S SYNDROME:Crouzon syndrome is caused by mutations in the FGFR2 gene, which is mapped to chromosome locus | 10q25-10q26 |
| Triad of calvarial deformities, facial anomalies and exophthalmos | CROUZON’S SYNDROME |
| Premature closure of calvarial and cranial base sutures as well as those of the orbit and maxillary complex | CROUZON’S SYNDROME |
| Other clinical features include hypertelorism, exophthalmos, strabismus, beaked nose, short upper lip, hypoplastic maxilla and relative mandibular prognathism | CROUZON’S SYNDROME |
| Premature closure of calvarial and cranial base sutures as well as those of the orbit and maxillary complex | craniosynostosis |
| TREACHER COLLINS SYNDROME: also called | MANDIBULAR DYSOSTOSIS (mandibulofacial dysostosis) |
| TREACHER COLLINS SYNDROME: etiology is mutation of | TCOF1 gene |
| rare genetic disorder characterized by facial deformities | TREACHER COLLINS SYNDROME |
| Found in 1 in 10,000 births; Downward slanting eyes | TREACHER COLLINS SYNDROME |
| Micrognathia (a small lower jaw); Conductive hearing loss | TREACHER COLLINS SYNDROME |
| Underdeveloped zygoma, drooping part of the lateral lower eyelids and malformed or absent ears | TREACHER COLLINS SYNDROME |
| TREACHER COLLINS SYNDROME:One known cause of this syndrome is a mutation in the TCOF1 gene, at chromosome _____ | 5q32-q33.1 |
| TREACHER COLLINS SYNDROME:The protein coded by TCOF1 gene is called ____and has been hypothesized to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face | treacle |
| TREACHER COLLINS SYNDROME: INHERITANCE PATTERN | autosomal-dominant pattern |
| TREACHER COLLINS SYNDROME: Possible treatment | surgeries on the face; hearing aids, surgery on a cleft palate |
| PIERRE ROBIN SYNDROME: etiology is mutation of | GAD67 gene, PVRL1 gene & SOX9 gene |
| PIERRE ROBIN SYNDROME: also known as | Pierre Robin Malformation |
| congenital condition of facial abnormalities in humas; caused by sequence: a chain of certain developmental malformations, one entailing the next | PIERRE ROBIN SYNDROME |
| Micrognathia; Posterior displacement or retraction of the tongue (glossoptosis) and upper airway obstruction; Incomplete closure of the roof of the mouth (cleft palate commonly Ushaped) | PIERRE ROBIN SYNDROME |
| is a congenital deformity caused by abnormal facial development during gestation | Clefting |
| Cleft lips or palates occur in somewhere between one in ____births | 600-800 |
| types of cleft lip and palate | Unilateral incomplete, Unilateral complete, Bilateral complete |
| CLEFTS OF THE LIP AND PALATE: A baby being fed using a customized bottle (bend into ___ degrees to position the baby enough to easily swallow the milk) | 45-90 |
| CLEFTS OF THE LIP AND PALATE: The ____ allows gravity to help the baby swallow the milk more easily | upright sitting position |
| is a genetic disorder of the connective tissue | MARFAN’S SYNDROME |
| MARFAN’S SYNDROME: etiology mutation of | FBN1 |
| MARFAN’S SYNDROME:FBN1 encodes a connective protein called ____ | fibrillin-1 |
| Skeletal: long limbs; Ocular: dislocated lenses; Cardiovascular: aortic root dilation | MARFAN’S SYNDROME |
| Other characteristics include a long, narrow face; Roof of the mouth may be arched causing teeth to be crowded | MARFAN’S SYNDROME |
| Other skeletal abnormalities may include a protruding or indented breastbone, curvature of the spine and/or flat feet | MARFAN’S SYNDROME |
| They are typically very tall, slender and loose jointed. The long bones of the skeleton, arms, legs, fingers and toes may be noticeably long in relation to the rest of the body | MARFAN’S SYNDROME |
| Dislocation of lens; Myopia; Ascending aortic dilation | MARFAN’S SYNDROME |
| Chest deformity (Pectus carinatum/ Pectus excavatum) | MARFAN’S SYNDROME |
| Eyesight – near-sighted (myopic), eye (or ocular) lens dislocation, retinal detachment; Lungs – spontaneous lung collapse (pneumothorax) | MARFAN’S SYNDROME |
| Cardio-vascular system – aorta widening or dilation, aortic aneurysms, mitral and/or aortic vavlve(s) prolapse/leakage | MARFAN’S SYNDROME |
| Skeleton – curvature of the spine, pigeon or funnel chest, tall stature, loose jointedness | MARFAN’S SYNDROME |
| Dislocation of lens | ectopia lentis |
| nearsightedness | Myopia |
| protrusion of breast bone | Pectus carinatum |
| indentation of breast bone | Pectus excavatum |
| curvature of the spine | scoliosis |
| pigeon or funnel chest | pectus deformity |
| MARFAN’S SYNDROME: treatment | no cure |
| MARFAN’S SYNDROME: management because of loose jointedness | Restricted physical activity |
| MARFAN’S SYNDROME: management for infective endocarditis (for cardiovascular complications) | Antibiotic prophylaxis |
| MARFAN’S SYNDROME: management to reduce aortic stress | Beta blockers (propanolol) |
| MARFAN’S SYNDROME: management to replace aortic valve | Composite grafts |
| Inherited defects in collagen metabolism | EHLER’S-DANLOS SYNDROME |
| EHLER’S-DANLOS SYNDROME: etiology | defects in collagen metabolism |
| Joint hypermobility, Cutaneous fragility, And hyperextensibility | EHLER’S-DANLOS SYNDROME |
| EHLER’S-DANLOS SYNDROME: severe form | Type IV/ Vascular Ehler’s-Danlos syndrome |
| Patients often have a shortened lifespan because of the spontaneous rupture of a large artery (eg, splenic artery, aorta) or the perforation of internal organs | Type IV/ Vascular Ehler’s-Danlos syndrome |
| Begins in early childhood. Ehlers- Danlos syndrome is usually diagnosed in ___ | EHLER’S-DANLOS SYNDROME |
| Narrow maxilla; Flattened midface; Wide nasal bridge | EHLER’S-DANLOS SYNDROME |
| Fragility of gingival and mucosal tissues; Temporomandibular joint dysfunction (locked jaw) | EHLER’S-DANLOS SYNDROME |
| Marked extensibility of the tongue | EHLER’S-DANLOS SYNDROME |
| EHLER’S-DANLOS SYNDROME:Sudden death in youth or early adult life may occur as a result of ________ | aneurysms and ruptured arteries |
| EHLER’S-DANLOS SYNDROME:____ is often unsuccessful because of suture failure, delayed wound healing, prolonged healing | Joint ligament repair |
| EHLER’S-DANLOS SYNDROME:___ is a common complication in patients with reapeated dislocation | Osteoarthritis |
| DOWN’S SYNDROME: etiology | TRISOMY 21 |
| genetic condition that is caused by the presence of an extra chromosome | DOWN’S SYNDROME |
| 1 in 600 births; Short broad nose; Epicanthal fold | DOWN’S SYNDROME |
| Small oral cavity; Large furrowed tongue | DOWN’S SYNDROME |
| Large irregular teeth; IQ from 20-50 | DOWN’S SYNDROME |
| Spots on the iris known as Brusfield spots | DOWN’S SYNDROME |
| Cognitive impairment; Congenital heart disease (typically a ventricular septal defect) | DOWN’S SYNDROME |
| Hearing deficits (maybe due to sensoryneural factors, or chronic serous otitis media) | DOWN’S SYNDROME |
| Short stature; Thyroid disorders; Alzheimer’s disease; Other less common serious illnesses include leukemia, immune deficiencies and epilepsy | DOWN’S SYNDROME |
| chronic serous otitis media, also known as ___ | Glue-ear |
| Fissured tongue often exhibit macroglossia; Small oral cavity; Open mouth posture | DOWN’S SYNDROME |
| Protruding tongue and habitual mouth breathing; Decreased palatal width and length | DOWN’S SYNDROME |
| Bifid uvula and cleft lip and palate are occasionally observed | DOWN’S SYNDROME |
| DOWN’S SYNDROME: Infants with significant congenital heart disease have ___ prognosis | poor |
| DOWN’S SYNDROME: Regular _____ follow-ups | ophthalmologic and audiologic |
| DOWN’S SYNDROME: Prevention of ____ | dental caries and periodontal disease |
| Progressive unilateral atrophy; Unknown cause; maybe due to trauma, dysfunction of peripheral NS, infection and genetic abnormalities | HEMIFACIAL ATROPHY |
| Early sign: painless cleft or furrow near the midline of the face | HEMIFACIAL ATROPHY |
| Orally, ___,____,___ may show hemiatrophy | tongue, lips and salivary glands |
| Dental abnormalities include incomplete root formation, delayed eruption, severe facial asymmetry resulting in facial deformation and difficulty with mastication | HEMIFACIAL ATROPHY |
| HEMIFACIAL ATROPHY:Presently there is no known definitive treatment but all available treatment schemes are adapted to the specific dysmorphology of individual patients which is geared to improving the ______________of the patient | facial profile and also the masticatory efficiency |
| Enlargement of the half of the face; Condition which involves the enlargement of half of the head with enlarged teeth on the involved side | HEMIFACIAL HYPERTROPHY |
| HEMIFACIAL HYPERTROPHY: types | Segmental, Simple, Complex |
| FRAGILE X SYNDROME(Fragile x Mental Retardation 1): etiology mutation of | FMR1 gene |
| condition primarily affecting males that causes learning disabilities and cognitive impairment | FRAGILE X SYNDROME |
| The most common cause of inherited mental impairment | FRAGILE X SYNDROME |
| This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes reffered to as mental retardation) | FRAGILE X SYNDROME |
| most common known cause of autism or “autistic-like” behaviors | FRAGILE X SYNDROME |
| Symptoms also can include characteristic physical and behavioral features and delays in speech and language development | FRAGILE X SYNDROME |
