Robin sequence: clearing nosologic confusion

To gather evidence surrounding the confusion in the classification of Robin sequence and inform those who have the power to make the changes in defining this symptom complex.

A questionnaire was sent to all participating cleft palate teams (N=204) of the American Cleft Palate-Craniofacial Association. The questionnaire identified the precise, different characteristics for diagnosing Robin sequence and evaluated whether the difference between a retrognathia and micrognathia influenced the diagnosis process. We subsequently also investigated whether the cleft type (i.e., U-shaped versus V-shaped) had any influence in the decision-making process. A PubMed literature review of the 50 most recent manuscripts about Robin sequence was evaluated also.

Seventy-three questionnaires were received. This 35% response rate revealed 14 different definitions of Robin sequence. A PubMed literature review of 50 consecutive manuscripts revealed 15 different descriptions.

This study confirms that nosologic confusion is widespread with regard to defining Robin sequence. This has implications for evaluating Robin sequence, giving advice about the prognosis and genetic counseling, and refining treatment options.