Re: Genetecists -- COMMON RSS CHARACTERISTICS

[Guest guest]

Hi! This is a tough but common question. I would recommend that

you call the MAGIC Foundation 800-3MAGIC3 and request their RSS and

their SGA pamphlets (you can also read them on line).

The double shorter arms than normal is a common characteristic of

several other growth-related disorders, but not RSS (at least, not

if BOTH arms are shorter than normal). His weight and height may be

higher than the mean for an RSS child, but they are still

significantly lower than normal. So I wouldn't rule out based on

that fact.

The primary distinguising features of RSS are a set of skull and

facial features that comprise a " phenotype. " It is a large head (in

comparison to the body), a forehead that is much larger than normal

and is " bossed " , meaning it sticks out in front somewhat. The ears

are posteriorly rotated (which means if you drew a line from the

highest point to the lowest point and held a rule to that, it tilts

way back towards the back of the skull) and sometimes the ears are

lowset as well, AND they often stick out from the head. The typical

RSS child has a triangular shaped face. This means simply that if

you take a photo of your child. Find the middle of the forehead.

Put a dot on the left side of the face and right side at the middle

of the forehead. Now find the chin. Draw a dot at the left side of

the chin bottom and the right side. Now connect all 4 dots.

The typical RSS child will have an inverted triangular shape with

this drawing. Other kids will have more of a rectangle, or a shape

where the top half is wider and the bottom half is narrow but still

more squarish.

I'm forgetting something here. Oh, small chin/mandible. 50% of RSS

kids also have asymmetry of a limb, most commonly the leg. And

about 90%+ have one or more of these pinky finger abnormalities:

curving (clinodactyly), short 5th finger, and/or 2 creases instead

of 3 creases.

I hope this makes sense. For those of us who have seen 200+ RSS

kids in person, truly, after that, you can put 10 children in front

of us, and I bet we can guess 8 out of 10 right after that. There

is just a " look " . The mild RSS kids who were also SGA are the tough

ones -- even Dr. H runs across some who she puts on their convention

form " RSS?/SGA " .

Salem

There

> What are the various things that a genetecists does to check for

rss? I am

> curious, because my sons arms are shorter than normal and he has

many

> characteristics of rss (bent pinky, tiny hands, large head, 1/2

foot shorter

> than most kids his age, giant soft spot that closed after two

years old)

> however, he does not seem to be RSS by the size/weight problems

mentioned on

> this board. He turns 4 may 2nd weighs 29 pounds and 36.5 inches.

He has

> grown about two inches in the last 6 months and maybe gained one

pound, but

> he has no eating issues.

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