Skeletal dysplasia Flashcards
(25 cards)
define dysplasia
abnormal development
Genetic defect for ACHONDROPLASIA
FGFR3
AD (though 80% sporadic)
Genetic defect for HYPOCHONDROPLASIA
FGFR3
Genetic defect for PSEUDOACHONDROPLASIA
COMP
Genetic defect for MULTIPLE EPIPHYSEAL DYSPLASIA (MED) TYPE 1
COMP
Genetic defect for MULTIPLE EPIPHYSEAL DYSPLASIA (MED) TYPE 2
type IX collagen
Genetic defect for SPONDYLOEPIPHYSEAL DYSPLASIA (SED)
Type II collagen
Congenita: AD + more severe
Tarda: X-linked Recessive
Genetic defect for KNIEST SYNDROME
Type II collagen
Genetic defect for STICKLER SYNDROME (HEREDITARY ARTHRO-OPTHALMOPATHY)
Type II collagen
Genetic defect for DIASTROPHIC DYSPLASIA
Sulfate transporter gene
- DTDST gene (SLC26A2) on chromosome 5
AD
Genetic defect for SCHMID METAPHYSEAL CHONDRODYSPLASIA
Type X collagen
Genetic defect for JANSEN METAPHYSEAL CHONDRODYSPLASIA
PTHRP
Genetic defect for CRANIOSYNOSTOSIS
FGFR2
Genetic defect for CLEIDOCRANIAL DYSPLASIA
CBFA1
Genetic defect for HYPOPHOSPHATEMIC RICKETS
PEX
Genetic defect for MARFAN SYNDROME
Fibrillin-1
Genetic defect for OSTEOGENSESIS IMPERFECTA
Type I collagen
Genetic defect for EHLERS- DANLOS SYNDROME
Types 1 + 2: Type V collagen
Type 4: type IV collagen
Types VI + VII: Type I collagen
Genetic defect for DUCHENNE / BECKER MUSCULAR DYSTROPHY
Dystrophin
Genetic defect for LIMB GIRDLE DYSTROPHIES
sarcoglycan + dystroglycan complex
Genetic defect for CHAROT-MARIE-TOOTH (CMT) SYNDROME
PMP22 on chromosome 17
AD
Genetic defect for SPINAL MUSCULAR ATROPHY
survival motor neuron protein
Genetic defect for MYOTONIC DYSTROPHY
myotonin
Genetic defect for FRIEDRICH ATAXIA
Frataxin
