A Roger Ballen’s photograph and the search for genetic diagnosis

The blogger PrecordialThump asks: "Like many of Roger Ballen’s photographs this leaves me speechless… One of his many gritty portrayals of the human condition. Diagnosis anyone?"

The Roger Ballen's Platteland photograph from 1993 has been posted multiple times on the web and many visitors have tried to find the likely diagnosis behind the brothers' striking appearance: "it isn’t enough that the twin brothers Dresie and Casie possess wildly protruding ears and tree trunk like necks but Ballen photographs them with gossamer like drool dripping from their thick pouting lips."

Berci Mesko, a future geneticis, seems to have found the correct answer - Fragile X syndrome.

Fragile X (FXS), or Martin-Bell syndrome is a genetic syndrome caused by mutation of the FMR1 gene on the X chromosome (increased CGG repeats). Escalante's syndrome is synonymous with the fragile X syndrome. This term has been used in Brazil and other South American countries. Fragile X is the most common form of inherited mental retardation.


Prominent characteristics of Fragile X syndrome include an elongated face, large or protruding ears, and low muscle tone. Image source: Wikipedia, Free Art License.

About 1 in 4000 males and 1 in 6000 to 8000 females have Fragile X syndrome.

What is "fragile" in Fragile X syndrome?

In 1969 Chris and Weesam first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site."


Location of FMR1 gene on the X chromosome. Image source: Wikipedia, public domain.

Aside from intellectual disability, prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, larger testicles in men (macroorchidism), and low muscle tone. Speech may include cluttered speech or nervous speech. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact.



Video by FRAXA - Fragile X Research Foundation.

References:
Roger Ballen, from Wikipedia, the free encyclopedia.
Roger Ballen's photos on Google Image Search.
Fragile X syndrome, from Wikipedia, the free encyclopedia.
Fragile X Syndrome. Genetics Modules, Duke.edu.
Image source: Dresie And Casie, Western Transvaal, 1993, by Roger Ballen, Guardian, UK.