Finals - Genetic Diseases Flashcards
It is a rare hereditary autosomal dominant disorder of the jaw that is caused by mutations of SH3- Binding protein, SH3BP2 on chromosome 4p16.3
Cherubism
Clinical feature of this disease is chubby cheeks or symmetric bilateral aymptomatic swelling of jaws
Cherubism
In cherubism, what causes the upward gaze of the patient?
Elevation of orbital floor
Osteopetrosis is also known as
Marble bone disease
Albert-Schónberg disease
Osteoclerosis fragilis demiralisata
Characterized by marked increase in bone density
Osteopetrosis
What are the 3 distinct forms of osteopetrosis?
Infantile (malignant) osteopetrosis
Intermediate type
Adult benign type
What is the difference between infantile and adult osteopetrosis?
Infantile- autosomal dominant
Adult - recessive
What type pd osteopetrosis is osteomyelitis common
Infantile
What type of osteopetrosis where bone defect is common such as carpal tunnel syndrome ?
Adult
What genetic disease may appear as a bone within a bone or endobone
Osteopetrosis
Is biopsy essential in osteopetrosis?
No
Treatment for osteopetrosis
Child: treat infection
Adult: none
Osteogenesis imperfecta is also known as
Brittle bones
Fragilitas ossium
Osteopsathyrosis
Lobstein’s disease
It is a condition resulting from abnormality in type 1 collagen
Osteogenesis imperfecta
This genetic disease is characterized by low bone density (osteopenia)
OI
What genes are involved in OI?
COL1A1 -17q21
COL1A2 - 7q22.1
What is the most common form and mildest OI?
Type I
What type of OI is assoc with dentinogenesis imperfecta
Type 3
Cleidocranial dysplasia is also known as
Marie and Sainton’s Disease
Scheuthauer - Marie - Sainton’s Syndrome
Mutational dysostosis
This is a congenital disorder of bone formation manifested with clavicular hypoplasia/agenesis
Cleidocranial dysplasia
What chromosome is involved in cleidocranial dysplasia
6p21
Gene CBFA1 OR RUNX2
Exhibits:
-high, narrow, arched palate
-prolonged retention of deciduous teeth
-cleft palate is common
-supernumerary teeth
Cleidocranial dysplasia
Crouzon’s Syndrome is also known as
Craniofacial dysostosis
This is rare group of syndromes characterized by craniosynostosis or premature closing of the cranial sutures
Crouzon’s syndrome
What gene is involved in crouzon’s syndrome?
Fibroblast growth factor receptor 2 (FGFR2)
On chromosome 10q26
Clinical feature can be described as frog face
Crouzon’s syndrome
What cranial sutures are commonly obliterated in crouzon’s syndrome?
Coronal and sagittal
Spine radiograph of this genetic disease reveals bifid spinous process and slight achindroplasia
Crouzon’s syndrome
Treatment of crouzon’s syndrome
Neurosurgical approach in case of intercranial phypertension which may lead to optic atrophy
Treacher collin’s syndrome is AKA
Mandibular dysostosis
It is a rare syndrome chracterized by defect derived from 1st and 2nd branchial arches
Treacher collins syndrome
What gene is involved in treacher collins?
Treacle or TCOF1
chromosome: 5q32 - 933.1
Clinical feature is bird or fish like appearance
Treacher collins syndrome
Exhibits:
Mandibular and malar hypoplasia
Malformation of external ear
Cleft palate
Fistulas
Atypical hair growth that extend up to cheeks
Antimongoloid palpebral fissures
Treacher
Pierre- Robin syndrome is AKA
Pierre robin syndrome
Pierre robin anomalad
Exhibits:
Micrognathia/retrognathia
Cleft palate
Glossoptosis
Pierre robin sequence
This is a heritable genetic defect of connective tissue
Marfan syndrome
What gene is involved in marfan syndrome?
FBNI gene
Exhibits:
Arachnodactyly
Thoracolumbar scoliosis /kyphosis
Skull is long and narrow
High arched palatal vault
Bifid uvula
malocclusion
Multiple odontogenic cyst
Marfan syndrome
