Re: General Question about Hypochondroplasia.

[Guest guest]

Greetings to all!

I need some help, first from the medical community, second, from all of my

fellow parental medical practitioners.

I was doing some research and came across several articles on

hypochondroplasia that states:

" The incidence of mental retardation is thought to be higher in

hypochondroplasia than in achondroplasia or the general population. This

observation has

been controversial and several studies have given conflicting results. It is

difficult to determine whether these discrepancies result from sampling bias

and or genetic heterogeneity. The authors' preliminary studies (Bellus &

Francomano, University of Colorado Health Sciences Center) suggest that

individuals

with FGFR3 N540K mutations (hypochondroplasia) may have an increased incidence

of mild-to moderate mental retardation or learning disabilities. "

" Because an increased prevalence of mild-to-moderate mental retardation

and/or learning disabilities in children with hypochondroplasia appears likely,

developmental milestones should be followed closely during early childhood and a

timely referral to an appropriate professional made if there are any

indications of learning difficulties during school-age years. "

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & ke

y=J6xoplUWGBY2d & gry= & fcn=y & fw=qvXb & filename=/profiles/hypochondroplasia/index.

html

Some individuals with hypochondroplasia also have an abnormally large head

(macrocephaly). In addition, the skull may be relatively broad and short (b

rachycephaly) or rectangular in shape with a slightly prominent forehead.

However,

the facial appearance is typically normal. Reports indicate that mild mental

retardation may also be present in approximately 10 percent of affected

individuals.

http://www.bchealthguide.org/kbase/nord/nord591.htm

So, there's my question, does anyone have some factual information on the

subject because when I googled the question I received the same comment in the

majority of the articles. I've been in LPA since birth, and adopted through

LPA, yet I've never known any of these observations on hypochondroplasia. In

fact I don't know if the LPA medical community has ever provided statistics as

to

percentages of disabilities within our genetic disorders. What are the odds

of an average parent having a child with a severe disability in opposition to

a dwarf hypochondroplasic parent? Is a 10% figure accurate?

So is it fact or fiction my fellow parental doctors?

Ernie Lee

Billings, Montana