Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome.
Robinow noted the resemblance of affected patients’ faces to that of a fetus, using the term “fetal facies” to describe the appearance of a small face and widely spaced eyes. Patients suffer from dwarfism, short lower arms, small feet, and small hands. Fingers and toes may also be abnormally short and laterally or medially bent.
It is believed to be caused by a mutation in ROR2 gene.The autosomal dominant form has been linked to three genes – WNT5A, Segment polarity protein dishevelled homolog DVL-1 (DVL1) and Segment polarity protein dishevelled homolog DVL-3 (DVL3).