Re: eyelashes ... e ... synophrys

[Guest guest]

Hi e;

Synophrys means eyebrows which grow together and sometimes meet atop the

nose.

Has anyone ever suggested Waardenburg Syndrome, Type 1 to you since the

synophrys, epicanthal folds (the corners of the eyelids), broad nasal bridge

and wide spaced eyes are all features of type 1 Waardenburg. Also going

along with this syndrome are eye features such as two different coloured

eyes, clear blue eyes (really piercing) or clear blue wedges in irises of

another colour. Another feature is a forelock of white hair on your head,

piebald skin patches (patches of lack of pigmentation) and deafness. There

are also sometimes bowel features.

The reason I ask .... there are other Mito families who have this Syndrome,

including myself. It is an autosomal dominant nuclear inheritance pattern,

but you may have just a few or many of the features. I have asked several

geneticists if there is a possibility of either Waardenburgs being a form

of Mito or of Mito "piggy backing" on the nuclear dominant pattern. I have

several family members affected with Waardenburgs (deafness and eye colouring

and bowel symptoms and white forelock ... and I forgot ... ptosis!) Many

of these family members are likely Mito patients also but have not yet been

tested .... you know that river in Egypt???

Jean

BTW ..... I love the picture of Chelsea

jayvelde@... wrote:

This subject caught my attention, as

people are always saying how long and beautiful Chelsea's eyelashes are (and

how jealous they are!). Most of the drs Chelsea has seen have also commented

on her mildly dysmorphic features. In report from the neuro she saw once

at U of M, he says "She had dysmorphic facial features including synophrys,

epicanthal folds, a broad nasal bridge and wide spaced eyes." This exam was

done when she was 3yrs and her features have become more prominent in the

past few years, she will be 7 soon. Other drs have said something about the

shape of her eyebrows. She is still the cutest thing ever, though! Here is

a current pic. BTW, what does synophrys mean? I could not find that in my

medical dictionary.

e, Chelsea's mom(nonspecific mito)

Please contact mito-owner with any problems or questions.

[Guest guest]

Jean, Thanks for the info, I assumed synophrys had something to do with eyebrows, since that is the first thing the drs have commented on. As far as Waardenburg's syndrome I have not heard of that, I looked it up in my medical dic, and Chelsea matches the facial features, has ptosis, but has grayish blue eyes and no white forelock, and her skin color is uniform, her hearing has also tested normal. But I am mostly dutch in heritage, so I will ask about it next time she sees a neuro. Do you know how they test for this?

And, oh yes, I know that river well! Been down it a few times myself and know others who enjoy the ride too much! Take Care!

e, Chelsea's mom(nonspecific mito)