Terminology
Shortening of the proximal bones
What is rhizomelia?
COL1A1 & COL1A2
What are the most common genes associated with osteogenesis imperfecta?
Cystic pinnae, hitchhiker thumbs, clubfoot
What are some clinical features of diastrophic dysplasia?
Enzyme replacement therapy
What is the treatment for MPS IVA (Morquio syndrome type A)?
The most abundant protein in mammals
Equal shortening of the proximal and distal bones
What is micromelia?
COMP
What is the gene associated with pseudoachondroplasia?
>99% of affected individuals have 1 of 2 mutations in FGFR3
What is the most common genetic cause of achondroplasia?
Similar to achondroplasia with an "unaffected" face
What is the presentation of pseudoachondroplasia?
The most common form of non-lethal skeletal dysplasia
What is achondroplasia?
Skeletal dysplasia mainly affecting ends of long bones
What is epiphyseal dysplasia?
EVC1 & EVC2
What are the genes associated with Ellis-van Creveld syndrome?
Postaxial polydactyly, ectodermal dysplasia, CHD
What are some clinical features of Ellis-van-Creveld syndrome?
Mutations in the COL2A1 gene
What causes spondyloepiphyseal dysplasia congenita (SED congenita)?
Short ribs leading to pulmonary hypoplasia
What makes a skeletal dysplasia perinatal lethal?
Flattening of the vertebrae and shortening at the ends of long bones
What is spondyloepiphyseal dysplasia?
FGFR3
What is the gene associated with achondroplasia?
Bone fragility, blue sclera, hypermobility
Caused by mutations in an untranslated gene RMRP
What is the genetic cause of cartilage hair hypoplasia?
Dysostosis multiplex
What is the term referring to progressive skeletal problems?
GALNS & GLB1
What are the genes associated with Morquio syndrome?
Deficiency in enzyme involved in the degradation of mucopolysaccharidoses
What is the molecular pathogenesis of Morquio syndrome?
Metaphyseal SD, blond fine sparse hair, immunodeficiency
What are some features of cartilage hair hypoplasia?
What is the amino acid required at every third position of collagen?