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This one is about: Syndrome Vs. Sequence


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Syndrome Vs. Sequence
Comments by Joanne Green

Ok, these two words are sometimes used interchangeably, and they are very close in meaning, but there is a difference. Let me give it a try - - 

A syndrome is a condition that is recognized by multiple factors that are present and related to the same genetic condition. A sequence is a pattern of morphology (or problems) that are seen to have come from a single 
factor.

An example - Treacher Collins Syndrome is a condition recognized by some very obvious craniofacial anomalies, such as small or missing cheekbones, tiny jaw, microtic ears, high-vaulted or cleft palate, etc. All of them 
related to an aberration in one gene.

My son, Joey, had Amniotic Banding (which is considered a sequence). He had syndactyl (joined) toes, prenatal amputation of toes, hemangeoma, cleft lip and palate, and a constriction band around his left wrist with accompanying edema in the left hand. It was all known to be caused by the unhappy circumstance of a rupture in the amniotic sac, which led to the destruction of the sac and therefore a loss of the protective barrier in the womb that separates the baby from the placenta.

To relate that to Pierre Robin, if the Pierre Robin is in fact a syndrome, then it would be something like Pierre Robin/Sticklers-related - - or, in this example, the small jaw and wide, horse-shoe-shaped cleft palate is 
part of a genetic disorder that affects the connective tissues of the child. If, however, it is simply Pierre Robin with no related syndromic issue - or Pierre Robin Sequence, then it is a small jaw and wide horseshoe-shaped cleft palate that are the result of the unhappy circumstance of the child's chin being tucked during gestation at the time 
that the chin was supposed to be developing. The resulting underdeveloped chin gave the tongue no room to drop down, so the cleft in the palate was formed.

So basically, a Syndrome is a case when things occur together due to a single factor (generally genetic) and a Sequence is a case when things occur in a pattern, stemming from a specific factor.

Clear as mud, right?

Joanne


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