Molecular Basis of Robin Sequence (RS)

Robin Sequence (RS) is a rare condition characterized by micro- or
retrognathia, cleft palate and respiratory insufficiency. RS is clinically
characterized by varying degrees of airway obstruction, causing respiratory
insufficiency and feeding difficulties. No consensus has been reached in
finding the best management plan for these children. Often conservative
treatment consisting of prone positioning, continuous positive airway pressure
or placement of a nasopharyngeal airway is sufficient, but sometimes a surgical
intervention like a tongue-lip adhesion/glossopexia, mandibular distraction or
a tracheostomy is needed.
Different hypothesis have been made to explain the nature of RS such as a
mechanic restraint in utero preventing the mandible to grow, intrinsic
mandibular malformation, or a neurological immaturity causing involuntary
control of the tongue. None of these however are confirmed by evidence based
research. Different genes have been suggested to be involved in RS, but none
was shown to cause the complete RS phenotype.

1. Identification of gene(s) causing RS.
2. Understanding of the molecular and cellular mechanisms leading to the
various manifestations of RS.
3. Enabling molecular diagnostics for RS.

This is a non-therapeutic observational study conducted in the Academic Medical
Centre outpatient clinic performed during 1year.

The risk of blood sampling is limited. There may be a benefit for patients who
will be diagnosed with RS in the future as the diagnosis may be confirmed
molecularly more easily but there is no benefit for the present participants.
Knowing the cause may lead to adequate genetic counselling and in the future to
more effective treatment. The study cannot be performed only in adults as
growth of the mandible cannot be studied in adults; and the number of adults
with RS is very small. Therefore we find it acceptable to perform the study in
children.