Genetic disorder gets name change, but patient’s father still not happy

Credit: Online Mendelian Inheritance in Man

The leading genetic disease database has chosen a new name for a genetic condition, following complaints from a man whose son has the condition.

On Aug. 11, 2017, two days after our coverage of the situation, the Online Mendelian Inheritance in Man (OMIM) database changed the primary name of the phenotype associated with mutations in the RPS23 gene. The new name describes a set of features: “Brachycephaly, Trichomegaly, and Developmental Delay,” or BTDD.

Brachycephaly describes a condition where the back of the head is abnormally flat and trichomegaly refers to extra length, curling, pigmentation, or thickness of the eyelashes.

Marc Pieterse, of the Netherlands, has a son with the rare RPS23 mutation, one of two known patients in the world. The mutation affects ribosomes, cell components involved in protein production. On Aug. 9, we reported on Pieterse’s crusade against OMIM’s original name for the condition, which dubbed it a syndrome. He has feared that calling it a syndrome would “stigmatize” his son’s condition and tried to get the paper underpinning the OMIM entry retracted. The American Journal of Human Genetics has said it will not retract the paper.

Pieterse told us he’s only partially pleased the name has been changed — he’s still unhappy that the original title, “MacInnes Syndrome,” remains listed as an alternate one.

Initially, OMIM had named the phenotype associated with RPS23 mutations after Alyson MacInnes, a researcher at the University of Amsterdam’s Academic Medical Center. The name had been selected by OMIM, following a standard procedure of using the last name of the last author of the scientific paper that described the link between the mutation and the set of features.

Pieterse told Retraction Watch that he doesn’t think BTDD is a great name, but he likes it much better than the previous one:

I think in the long term, it’s not describing well what is going on. As an intermediate solution for this naming game, I can live with it. If they want to describe it in this way, I won’t be upset about it.

However, OMIM lists MacInnes Syndrome as an alternative title, which Pieterse says he will not endure:

Take out the alternative name. You don’t need an alternative name anymore now…

I don’t think it’s a big deal for OMIM to leave it out.

OMIM Director Ada Hamosh, a professor at Johns Hopkins University, is on vacation, her assistant told us. When we spoke to Hamosh for our original story, she told us that the names of phenotypes can change, but the database entry is likely to continue displaying past names:

[OMIM] is a complete record of everything that happened.

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9 thoughts on “Genetic disorder gets name change, but patient’s father still not happy”

  1. Is it not enough that the father has enough to cope with by the illness of his child and OMIMs masters won’t even give him this small comfort?

    OMIM may need a change of leadership.

    1. > OMIMs masters won’t even give him this small comfort?

      How can you comfort such a man? He objects to the term “syndrome” but thinks the suffix “-pathy” confers less of a stigma.

  2. Considering it was only in 2010 that the National Library of Medicine changed conjoined twins to ABNORMALITIES, SEVERE TERATOID, I think this is progress. Before that date, it was MONSTERS. This is no longer acknowledged in NLM scope notes, but you can read about the change here:

    However, in the world of cataloguing/indexing, the director is correct that you shouldn’t remove the alternative name. Calling it an alternative name doesn’t mean it is acceptable to use it, but it is critical for researchers who are not yet aware of the change to learn to use the new term, and for us to have an historical understanding of why the term has changed and when. A great example is of IDIOCY, which was later changed to MENTAL RETARDATION and is now INTELLECTUAL DISABILITY. As we have changed our thinking over time, we use different terms. Anyone studying the history of our understanding of intellectual disabilities would need to know how our terms have changed and why and when.

    Anyway, for the non-librarian, hard-core cataloguing geeks, read the 1971 classic in library science Prejudices and Antipathies: A Tract on the LC Subject Heads Concerning People. It was really the start of the movement to eliminate biased terminology in controlled vocabularies.

    PS. A note for those who might not be aware, in cataloguing, all caps is used for the controlled term. I’m not shouting, just trying to indicate that’s the controlled term.

    1. Continuing down the euphemism treadmill is by no means progress. A syndrome is a syndrome; it is a medical term for a medical condition. To say, “Hmm, I don’t think I want to have a syndrome, let’s call it something else” doesn’t change the fact that the person has a syndrome.

      No, this seems to me more like a father who cannot come to grips with the reality of his child’s syndrome.

  3. This is absolutely ridiculous. He needs to accept the fact that his son has a syndrome and not try to make the medical community bow to his fears. I consider this a blow to OMIM’s integrity.

    I consider it obscene that this man has been humored, or worse, taken seriously; you cannot change the meaning of words simply because you don’t like it. Might as well say, “I can’t have cancer! What will other people say? Surely we can come up with a different name!” To change the name is not to change what you have; ‘a rose by any other name,’ and all that.

    1. Sometimes medics forget why they do medicine.

      It certainly is not to upset or cause further stress to a family, that is entirely avoidable.

  4. I guess I’m missing the point. The syndrome was not named for the child but for the author. How does that name stigmatize the child? How does categorizing the plurality of signs by calling it a syndrome (which is what it is) stigmatize the child?

    1. Agree completely. I don’t see why MacInnes Syndrome is any more or less stigmatizing than BTDD or RPS23 ribosomopathy. I feel for the father (and even more for his son), but this seems to be a personal crusade against MacInnes. Note that it is mentioned that there has been a breakdown of communication even before this whole brouhaha and that originally the father objected to the name because he was under the impression that MacInnes had named it after herself to further her career.

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