What Is ROHHAD Syndrome?

ROHHAD is a Medical Acronym for:

R O H H A D

Rapid Onset Obesity, with Hypothalamic Dysfunction, Hypoventilation and Autonomic Nervous System Dysregulation.

A Doctor’s View

ROHHAD syndrome is a rare syndrome affecting children, causing previously normal healthy children to gain weight and have breathing difficulties, as well as other problems. Almost every child with ROHHAD syndrome is different as they vary in the timing of the onset of symptoms as well as the degree and range of features. As there is no definitive test for ROHHAD syndrome and it is primarily a descriptive syndrome, the diagnosis is challenging and not always considered. It is likely that ROHHAD syndrome is not one single condition, but a collection of similar conditions with different causes which would explain the wide spectrum seen in this syndrome. Due to the unpredictable nature of ROHHAD syndrome and the associated unexpected death, both health professionals and families want to be sure of the diagnosis.

This life-threatening condition needs greater awareness and understanding. Although some research has been done looking into genetic causes, it is very limited. It remains unclear whether the syndrome has an underlying genetic cause or whether there are other factors. More research in this condition is required, not only to improve diagnosis, but also to develop therapies to treat and improve the lives of these children and hopefully prevent the severe morbidities associated with ROHHAD syndrome, especially cardio-respiratory arrest.

Doctor Guftar Shaikh
Paediatric Endocrinologist
The Royal Hospital for Sick Children, Glasgow, UK

With ROHHAD being classified as an ‘orphan disease’ (typically defined as affecting fewer than 1-in-2000 people), it means that governments and pharmaceutical companies don’t allocate any research budget to finding treatments or a cure for ROHHAD.

Several charities have been set up to raise funds for research into ROHHAD. There are links to the charities on our Fundraising page and information on the various research projects is available in our Research section.