(Trichorhinophalangeal Syndrome, Type II)
This Syndrome can also go under the name of "Langer-Giedion Syndrome". A good patient's (non-jargon) description of it can be found at http://wimp.nsm.uh.edu/LGS-GD.html, and a doctor's (very jargony) description at http://wimp.nsm.uh.edu/lgs.html. The Home Page centring on LGS ican be found at http://wimp.nsm.uh.edu/LGS.html (University of Houston).
Basically, I think (and I am not a qualified MD - in fact, I never even studied Biology at school... preferred Physics and Chemistry instead.. all 4-7 years of it!) that it occurs when one gene, or a part of it, is missing. In other words, it's a genetically based condition. It comes in two parts..... EXT1, which causes growths (benign cancers?) on bones, and another (named TRPSI by the medical/gene world) which puts a sort of a cone onto some of the growing ends of the bones. What happens when the kid grows up, and stops growing, I have yet to find out!
There are other signs which some, but not all, patients have... such as being short, having folds in their skins when they're still kids (young kids, at that), and (sometimes) double-jointedness. To have one, two, or even all of these body traits is not to say "LGS", but rather that someone with LGS is more liable to also fit one or more of these descriptions.
Although it is genetically-based, LGS does not actually seem to be an inherited condition; it is not a condition that parents must have a problem with their genes. The trouble actually seems to lie, according to medical research, by abnormal development of either parent's contributions before conception.
Another, slightly conflicting, account of LGS is to be found on the web at http://wimp.nsm.uh.edu/LGS-GD.html. Here, it is put forward that EXT1 is known as "hereditary multiple exostosis", and is dependant on a parent's genes, by virtue of it's very name. It is perhaps possible to reconcile this with the previous viewpoint (that a parent's genes are not responsible) by the reader by close and careful scrutiny of the evidence presented.
This apparent difficulty is resolved by MeSH, a subdivision of the US National Library of Medicine. Quoting direct, we have..
"Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE)."
In other words, the EXT1 that presents in LGS is similar to HME, but not necessarily by itself hereditary.
There is an Association for LGS children - by which I assume none have yet grown to adulthood? - on the web at http://www.geocities.com/HotSprings/9308/.
LGS can be a subset of syndromes and diseases known collectively as Ectodermal Dysplasias.
In Britain, there exists the Rare Disorders Alliance. This puts together familis of many disorders, all rare in occurence, It is the rarity of these conditions that make patients and their families sometimes consider themselves unique... maybe they are! But other people do exist who, at least, have the same disorder.... the Alliance attempts to put them in contact, for their mutuakl good. As they put it...
"Many individuals have grown up to adulthood living with such a rare disorder that they have never met another person with the same condition. Families are devastated when they are told that a child has any disorder but when it is a very rare condition they face added problems such as difficulties of diagnosis, lack of clear information and variation of advice and treatment around the country."
They are, I think, part and parcel of another organisation, "Contact a Family" at the same web page, and their telephone number is 0808 808 3555.