Robin sequence-oligodactyly syndrome

Robin sequence-oligodactyly syndrome is a rare genetic condition that occurs during embryogenesis. It is characterized by features of Robin sequence such as a very small lower jaw (severe micrognathia), tongue that is positioned further back than normal (retroglossia), and a U-shaped cleft in the back of the palate. These facial challenges can also be accompanied by a narrow face and narrow lower dental arch. In addition to the facial features, this syndrome includes limb differences known as pre- and postaxial oligodactyly, meaning that people may have fewer fingers or toes or malformations in these digits. Other hand and wrist abnormalities such as clinodactyly, missing phalanges, fused bones in the hand, and underdeveloped wrist bones have been reported. Notably, there have not been further descriptions of this condition in the literature since 1986.

The symptoms of this condition include severe micrognathia (a very small lower jaw), retroglossia (a tongue positioned further back than normal), and a U-shaped cleft of the posterior palate as part of the Robin sequence. In the hands, there can be fewer fingers or toes (oligodactyly), along with features such as clinodactyly (curved fingers), missing phalanges, fusion of metacarpal bones, and underdeveloped wrist bones.

Robin sequence-oligodactyly syndrome is a genetic condition that arises during embryonic development. Although it is known to be a developmental defect, specific genes have not been identified for this condition. The genetic and developmental nature of this syndrome suggests that changes in the way a baby develops in the womb are responsible for the varied features seen in affected individuals.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. It is notable that there have been no further descriptions in the literature since 1986.