Posted on

“Kniest Dysplasia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (COL2A1)

Scroll down to see more content

IDC10 Code = Q78.8

Genomic coordinate (human 12:47,972,967 COL2A1).

Cytoband (human 12q13.11 COL2A1).

Intraband%=  73.1% COL2A1

OMIM’ genes @ 12q13.11 = 12 genes.

OMIM’ pleiotropy = (#156550 Kniest Dysplasia & 15-other conditions).

Polymorphs = 3,750 COL2A1 variants in ClinVar.

Hyperbolic Umbilic Chromosome-12 is 1,200 genes.

Here I present: “Kniest Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (COL2A1)

INTRODUCTION.

Kniest Dysplasia shares characteristics with type-II collagen disorders. The typical presentation frequently involves a variety of musculoskeletal, craniofacial, and sensory manifestations:

  1. Skeletal Development: Often resembles disproportionate short-trunk dwarfism, accompanied by enlarged, stiff joints and curvature of the spine (kyphoscoliosis).
  2. Craniofacial Features: Frequently includes a flattened facial profile, wide-set eyes, or a cleft palate.
  3. Sensory Impairments: Often presents with high myopia (severe nearsightedness) that risks retinal detachment, alongside early-onset hearing loss.

 

Leave a Reply