Robinow Syndrome (RS) is a rare genetic disorder that affects individuals by a combination of short-stature, facial malformations, underdeveloped genital, and limb defects. According to the Robinow Syndrome Foundation (2007), there are only about 120 known cases in the United States. Although the syndrome has been extensively studied in terms of the genetic and physical dimensions, there is less research regarding the psychological implications of the syndrome. Therefore, the current study examined the potential psychological implications to address this gap in the literature.

Similar syndromes that affect aesthetic appearance appear to impact self-esteem, emotional functioning, and behavioral functioning. Because similar syndromes influence psychosocial well-being, it is reasonable to hypothesize that RS has similar manifestations in the psychosocial functioning of people with the condition. Therefore, in the current study, individuals with RS were recruited, as well as individuals without known physical or psychological disabilities. Differences between the groups were assessed using four psychosocial measures. To supplement quantitative survey data, phone interviews were conducted with individuals with RS. The interview protocol consisted of questions regarding self-esteem, internalizing and externalizing behaviors, as well questions focused on work, school, and family.

Quantitative results demonstrated that individuals with RS had lower levels of general, social, affect, and physical self esteem. However, individuals with RS did have higher competence self esteem than the comparison group. In regard to internalizing behaviors, individuals with RS reported more symptoms associated with depression, somatic complaints, phobic anxiety, hostility, obsessive-compulsiveness, and interpersonal sensitivity. Lastly, no significant differences were observed between the groups in terms of externalizing behaviors.

Results of the current study were consistent with previous research regarding social, affect, and physical self esteem and internalizing behaviors. However, results demonstrated that individuals with RS had higher levels of competence self-esteem and there were not any significant differences between the groups in terms of externalizing behaviors. Explanations for these findings are discussed and may be understood by examining the lack of personal relationships individuals with RS have, the Theory of Objective Self-Awareness, and body image research. Lastly, directions for future research, implications for practitioners, and limitations of the current study are discussed.