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level: HEREDITARY

Questions and Answers List

level questions: HEREDITARY

QuestionAnswer
When fibrous dysplasia occurs in jaw, there is bilateral swelling of the angle of the jawCHERUBISM
Accompanied by upturned eyes from facial fibrous dysplasia, gives a cherubic look to the faceCHERUBISM
Mutations in the _____ gene have been identified in about 80 percent of people with cherubismSH3BP2
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 cherubsCHERUBISM
Autosomal dominant condition; Microscopically is a giant cell lesion (overgrowth of tissue)CHERUBISM
Self-limiting, stabilizes after puberty; Characteristic perivascular collagen condensation sometimes presentCHERUBISM
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 radiolucenciesCHERUBISM
It is an extremely rare inherited disorder whereby the bones harden, becoming more denser (the bone becomes more brittle)OSTEOPETROSIS
OSTEOPETROSIS: ETIOLOGY IS MUTATION OFSNX10 genes
OSTEOPETROSIS: Also known asmarble bone disease and Albers-Schonberg disease
OSTEOPETROSIS can also causeosteosclerosis
Sufferers of osteopetrosis have a deficiency of ___osteoclasts
More brittle than normal; Mild form may cause no symptoms, and present no problemsOSTEOPETROSIS
Serious forms can result in stunted growth, deformity, increased likelihood of fractures, and anemiaOSTEOPETROSIS
It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra boneOSTEOPETROSIS
OSTEOPETROSIS treatmentno cure
OSTEOPETROSIS treatment: although ___________ is being investigatedcurative 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 anemiaErythropoietin
OSTEOPETROSIS treatment:may alleviate both the anemia and stimulate bone resorptionCorticosteroids
OSTEOPETROSIS: alternative treatment as there is no cure:bone marrow transplantation, vitamin D, erythropoietin, corticosteroids
OSTEOGENESIS IMPERFECTA: etiology mutation ofCOL1A1 & COL1A2 genes
Frequent bone fractures that may begin before birth that results from little or no traumaOSTEOGENESIS IMPERFECTA
Blue sclerae, short stature, hearing loss, respiratory problemsOSTEOGENESIS IMPERFECTA
Disorder of tooth development called dentinogenesis imperfectaOSTEOGENESIS IMPERFECTA
The most severe forms of osteogenesis imperfectatype II
An abnormally small, fragile rib cage and underdeveloped lungsOSTEOGENESIS IMPERFECTA TYPE II
Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birthOSTEOGENESIS IMPERFECTA TYPE II
CLEIDOCRANIAL DYSPLASIA:ETIOLOGY MUTATION OFRUNX2
CLEIDOCRANIAL DYSPLASIA:ALSO CALLEDCleidocranial 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 sutureCLEIDOCRANIAL 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 spineCLEIDOCRANIAL DYSPLASIA
Wide nasal bridge due to increased space between the eyeshypertelorism
protruding brow bonefrontal 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 chromosome6p21
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 teethCLEIDOCRANIAL DYSPLASIA
"THE CHILD MAY HAVE THE FOLLOWING PROBLEMS:Ability to touch the shoulders together in front of the body; Wide pelvic bone; Loose jointsCLEIDOCRANIAL DYSPLASIA
THE CHILD MAY HAVE THE FOLLOWING PROBLEMS: Hearing loss and/or frequent infectionsCLEIDOCRANIAL DYSPLASIA
CLEIDOCRANIAL DYSPLASIA: treatmentApply dentures over the unerupted teeth; Teeth removal as they erupt
CROUZON’S SYNDROME: also calledCRANIOFACIAL DYSOSTOSIS
CROUZON’S SYNDROME: etiology mutation ofFGFR2 gene
CROUZON’S SYNDROME:Crouzon syndrome is caused by mutations in the FGFR2 gene, which is mapped to chromosome locus10q25-10q26
Triad of calvarial deformities, facial anomalies and exophthalmosCROUZON’S SYNDROME
Premature closure of calvarial and cranial base sutures as well as those of the orbit and maxillary complexCROUZON’S SYNDROME
Other clinical features include hypertelorism, exophthalmos, strabismus, beaked nose, short upper lip, hypoplastic maxilla and relative mandibular prognathismCROUZON’S SYNDROME
Premature closure of calvarial and cranial base sutures as well as those of the orbit and maxillary complexcraniosynostosis
TREACHER COLLINS SYNDROME: also calledMANDIBULAR DYSOSTOSIS (mandibulofacial dysostosis)
TREACHER COLLINS SYNDROME: etiology is mutation ofTCOF1 gene
rare genetic disorder characterized by facial deformitiesTREACHER COLLINS SYNDROME
Found in 1 in 10,000 births; Downward slanting eyesTREACHER COLLINS SYNDROME
Micrognathia (a small lower jaw); Conductive hearing lossTREACHER COLLINS SYNDROME
Underdeveloped zygoma, drooping part of the lateral lower eyelids and malformed or absent earsTREACHER 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 facetreacle
TREACHER COLLINS SYNDROME: INHERITANCE PATTERNautosomal-dominant pattern
TREACHER COLLINS SYNDROME: Possible treatmentsurgeries on the face; hearing aids, surgery on a cleft palate
PIERRE ROBIN SYNDROME: etiology is mutation ofGAD67 gene, PVRL1 gene & SOX9 gene
PIERRE ROBIN SYNDROME: also known asPierre Robin Malformation
congenital condition of facial abnormalities in humas; caused by sequence: a chain of certain developmental malformations, one entailing the nextPIERRE 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 gestationClefting
Cleft lips or palates occur in somewhere between one in ____births600-800
types of cleft lip and palateUnilateral 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 easilyupright sitting position
is a genetic disorder of the connective tissueMARFAN’S SYNDROME
MARFAN’S SYNDROME: etiology mutation ofFBN1
MARFAN’S SYNDROME:FBN1 encodes a connective protein called ____fibrillin-1
Skeletal: long limbs; Ocular: dislocated lenses; Cardiovascular: aortic root dilationMARFAN’S SYNDROME
Other characteristics include a long, narrow face; Roof of the mouth may be arched causing teeth to be crowdedMARFAN’S SYNDROME
Other skeletal abnormalities may include a protruding or indented breastbone, curvature of the spine and/or flat feetMARFAN’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 bodyMARFAN’S SYNDROME
Dislocation of lens; Myopia; Ascending aortic dilationMARFAN’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/leakageMARFAN’S SYNDROME
Skeleton – curvature of the spine, pigeon or funnel chest, tall stature, loose jointednessMARFAN’S SYNDROME
Dislocation of lensectopia lentis
nearsightednessMyopia
protrusion of breast bonePectus carinatum
indentation of breast bonePectus excavatum
curvature of the spinescoliosis
pigeon or funnel chestpectus deformity
MARFAN’S SYNDROME: treatmentno cure
MARFAN’S SYNDROME: management because of loose jointednessRestricted physical activity
MARFAN’S SYNDROME: management for infective endocarditis (for cardiovascular complications)Antibiotic prophylaxis
MARFAN’S SYNDROME: management to reduce aortic stressBeta blockers (propanolol)
MARFAN’S SYNDROME: management to replace aortic valveComposite grafts
Inherited defects in collagen metabolismEHLER’S-DANLOS SYNDROME
EHLER’S-DANLOS SYNDROME: etiologydefects in collagen metabolism
Joint hypermobility, Cutaneous fragility, And hyperextensibilityEHLER’S-DANLOS SYNDROME
EHLER’S-DANLOS SYNDROME: severe formType 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 organsType 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 bridgeEHLER’S-DANLOS SYNDROME
Fragility of gingival and mucosal tissues; Temporomandibular joint dysfunction (locked jaw)EHLER’S-DANLOS SYNDROME
Marked extensibility of the tongueEHLER’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 healingJoint ligament repair
EHLER’S-DANLOS SYNDROME:___ is a common complication in patients with reapeated dislocationOsteoarthritis
DOWN’S SYNDROME: etiologyTRISOMY 21
genetic condition that is caused by the presence of an extra chromosomeDOWN’S SYNDROME
1 in 600 births; Short broad nose; Epicanthal foldDOWN’S SYNDROME
Small oral cavity; Large furrowed tongueDOWN’S SYNDROME
Large irregular teeth; IQ from 20-50DOWN’S SYNDROME
Spots on the iris known as Brusfield spotsDOWN’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 epilepsyDOWN’S SYNDROME
chronic serous otitis media, also known as ___Glue-ear
Fissured tongue often exhibit macroglossia; Small oral cavity; Open mouth postureDOWN’S SYNDROME
Protruding tongue and habitual mouth breathing; Decreased palatal width and lengthDOWN’S SYNDROME
Bifid uvula and cleft lip and palate are occasionally observedDOWN’S SYNDROME
DOWN’S SYNDROME: Infants with significant congenital heart disease have ___ prognosispoor
DOWN’S SYNDROME: Regular _____ follow-upsophthalmologic 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 abnormalitiesHEMIFACIAL ATROPHY
Early sign: painless cleft or furrow near the midline of the faceHEMIFACIAL ATROPHY
Orally, ___,____,___ may show hemiatrophytongue, lips and salivary glands
Dental abnormalities include incomplete root formation, delayed eruption, severe facial asymmetry resulting in facial deformation and difficulty with masticationHEMIFACIAL 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 patientfacial 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 sideHEMIFACIAL HYPERTROPHY
HEMIFACIAL HYPERTROPHY: typesSegmental, Simple, Complex
FRAGILE X SYNDROME(Fragile x Mental Retardation 1): etiology mutation ofFMR1 gene
condition primarily affecting males that causes learning disabilities and cognitive impairmentFRAGILE X SYNDROME
The most common cause of inherited mental impairmentFRAGILE 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” behaviorsFRAGILE X SYNDROME
Symptoms also can include characteristic physical and behavioral features and delays in speech and language developmentFRAGILE X SYNDROME