Jack was diagnosed with M-CMTC in April of 2004. We had been concerned for a long time that Jacks initial diagnosis of Walker Warburg Syndrome wasn't correct, and after some research ( a hell of a lot actually - and a massive amount of luck) we came across Macrocephaly Cutis Marmorata Telangiectasia Congenita (to give it it's full name!), and after approaching Jacks Community Paediatrician with the information I had gathered, we were given another appointment with a geneticist who confirmed that we were correct and that Jack did indeed have M-CMTC.
So here is some basic information about M-CMTC....just to give you a view of what it actually is....
Children born with this condition are often large at birth (Jack was 10lbs when he was born at 35 weeks gestation!) and have extra large heads, especially foreheads (frontal bossing) - Macrocephaly. Hydrocephalus often appears during the first year of life, although Jack was diagnosed with it before he was born.
The skin has a “mottled” or blotchy pattern (Cutis Marmorata) that increases with crying and fades when they are calm. There is usually a reddish mark or patch on the nose or upper lip and/or a V shape on the forehead (neuvus flammus).
Growth decelerates with time and by age two, they are small for their age - this has not happened with Jack however, and he is very tall - although he is a little on the "skinny" side.
Often there is asymmetrical development of the head, face, or limbs (dysmorphic features). Their motor development reveals hypotonia or low-muscle tone and often, hyper mobility (loose joints) - Jack is INCREDIBLY double jointed. There is usually developmental and speech delays as well - although Jack has profound and multiple Learning Difficulties.
Superficial characteristics include, widely spaced, deep-set eyes, full cheeks, puffy hands and feet, an extra wide space between the first and second toes, syndactyly (toes that are grown together), and sometimes umbilical hernias. The skin is somewhat loose and “strechy” and soft and velvety to the touch. Often, prominent or bulging veins (Telangiectasia) can later be seen through the skin, especially while crying.
Although there has been no conclusive research on this condition, it is thought to be the result of a genetic deletion that occurs “spontaneously” in each new case. It has never been found to occur twice within the same family. The condition is quite variable and not every child shows every symptom.
In brief....
MACROCEPHALY - Abnormal largeness of the head - differs from hydrocephalus because there is no increased intecranial pressure and the overgrowth is symmetrical - Jack does however have Hydrocephalus also.
CUTIS MARMORATA - Basically means "Marbled Skin"
TELANGIECTASIA - A localised collection of enlarged blood vessels
CONGENITA - Simply means "Born with"
Note: M-CMTC syndrome has been re-named as M-CM syndrome. The medical profession feels this describes the condition more accurately