Chudley-Rozdilsky-Houston Syndrome (named for the researchers who have studied the syndrome) is thought to be an autosomal recessive trait that causes multiple diseases, including developmental delays.
Among the maladies of the only two known people to have this syndrome:
- Facial abnormalities
- Short stature
- Problems with endocrine glands
- Hypogonadism
There is a long list of other physical and developmental issues, which you can read about here.
The subjects of Chudley, Rozdilsky, and Houston were siblings born to parents who were first cousins. They noted genetic abnormalities in other family members, but none as severe as the syndrome they described. Both ended up being placed in institutions to receive care for their ongoing medical, psychological, and social needs.
In the spirit of fairness, the syndrome was named for the first three scientists on their published paper, but here is a complete list of those who worked to identify this autosomal recessive series of disorders: Albert E. Chudley, Bhoday Rozdilsky, C. Stuart Houston, Lawrence E. Becker, and Joan H. Knoll. You can read their fascinating paper here.
It’s interesting to note that, to date, there have been no new cases of the syndrome. But I’m sure research is continuing because of the severe affects, including skeletal abnormalities, tissue abnormalities, and brain-function abnormalities.
