Genomic coordinate (9:91,722,601 human ROR2) & (13:53,263,353 mouse Ror2).
Here I present: “Tyrosine Kinase-like Orphan Receptor“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ROR2) 酪胺酸激酶樣孤兒受體。icd10=E70.29
INTRODUCTION.
Tyrosine-protein kinase transmembrane receptor (ROR2) is a protein that in humans is encoded by the ROR2 gene located on cytogenetic location 9q22.31 and genomic coordinate 9:91,722,601. This protein is responsible for aspects of bone and cartilage growth. It is involved in Robinow syndrome. ROR2 is a member of the receptor tyrosine kinase-like orphan receptor (ROR) family.
Recessive Robinow syndrome (RRS) is a genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, and vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow.
Recessive-autosomal Robinow Syndrome (RRS).
Usually is severe.
Caused most often by ROR2 gene mutations.
Features include:
Short stature
Severely shortened limbs (mesomelic shortening)
Vertebral segmentation defects (hemivertebrae, fused vertebrae → scoliosis)
Characteristic facial appearance (“fetal face”):
Broad forehead
Wide-set eyes
Short upturned nose
Triangular mouth
Genital hypoplasia:
Males: micropenis with normal testes
Females: small clitoris/labia
