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Dubowitz Syndrome...

Posted by on Jun. 20, 2007 at 11:28 AM
  • 8 Replies
Anyone here familiar with it?  We take our youngest to the geneticist this month to be checked.  Her mother has it so DSS wants Peanut looked at.  Her ped. said she doesn't show any of the typical facial signs, but we are still worried.  From everything I've read so far.....well, it's a bit overwhelming. 

by on Jun. 20, 2007 at 11:28 AM
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by on Jun. 20, 2007 at 11:30 AM
what kind of syndrome is it???what are the symptoms??
by on Jun. 20, 2007 at 11:31 AM
I have never heard of that what is it?
by on Jun. 20, 2007 at 11:37 AM
Here is the definition:

Syndrome Dubowitz syndrome 1 Synonym dwarfism-eczema-peculiar facies syndrome Summary A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema Some features of this syndrome are similar to those in Bloom and fetal alcohol syndromes. Major Features Head and neck: Microcephaly, micrognathia, prognathism triangular face, high sloping forehead, craniosynostosis, narrow bifrontal diameter, dolichocephaly, trigonocephaly, small face and narrow face, brachycephaly, large open fontanels, prominent occiput, prominent glabella, flat occiput, and Robin sequence. Ears: Large or small ears, low-set posteriorly angulated ears, hypoplastic helices, anteverted auricles, prominent lower anthelices, folded helices, cup-shaped ears, hypoplastic tragus, and ear or pre-auricular fistulae. Otitis media is frequent. Eyes: Blepharophimosis, blepharoptosis, telecanthus, hypertelorism or hypotelorism, upslanted or downslanted palpebral fissures, epicanthus, arched eyebrows, strabismus, esotropia, microphthalmia, iris coloboma, nystagmus, anisocoria, megalocornea, iris hypoplasia, oculomotor paralysis, astigmatism, blue sclera, deep optic nerve cupping, immature retinal vessels, and tortuosity of retinal vessels.

Peanut does have microcephaly, but not to the extreme.  She is underweight for her age, but long.  She's 11 months and weighs 16lbs. 5 oz, but is 29" long.  The ped. does not see any of these descriptions in her facial features or anything else for that matter.  She did have to wear a helmet for two months but was told it was because she was left laying around for the first four months of her life so her head was extremely flat in the back.  The plastic surgeon we saw for the helmet said she doesn't think she has it, but that she just looks like her mother (it is very obvious by looking at her that she has it).   It is also extremely rare.
by on Jun. 20, 2007 at 11:46 AM
Here is an "easier to understand" definition:

Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Symptoms may be detected while the fetus is still in the uterus (intrauterine) as well as immediately after birth (neonatal).

Facial appearance is a key to the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped (hypoplastic) bones above the eyes (supraorbital ridges); increased distance between the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic) lateral eyebrows; very small lower jaw (micrognathia) and receding chin (retrognathia). Affected children are often hyperactive, stubborn and shy.

by on Jun. 20, 2007 at 11:55 AM
Listen sweetie, I know this is going to be hard to do, but you need to stop worrying about it! My baby was born a year ago and the nurse in the ob suggested that Morgan had down syndrome. The ped. gave her  a look and said she had no features and that we would test her later on. When she was three weeks old we got the test done, at 6 weeks it came back normal.

I can not stress to you the deep depression i was in for those 6 weeks! I worried for nothing. People were telling me she looked normal and I just wouldnt believe them. I thought someone in the nurses field told me so, so it was true. I looked up everything on it. called ask a nurse. Asked special needs teachers at the school about children who had it. I just was really obsessed.

Go see the dr. do a test or what have you. And try not to worry until you find out the results, then go from there. Worrying isnt going to make anything better, in fact, it may make things worse. Enjoy your baby! And just pray , I dont lots of praying while those test were being done!!!

Good luck! And God bless~
by on Jun. 23, 2007 at 8:32 AM

Thanks sarahmom!  I try not to worry, but it is hard.  Especially when I see her mom and see her difficulties every week at visitation. 

We are hopeful though that all will be well with her!  :)

by on Jun. 24, 2007 at 12:57 AM
I'm a g-ma to a downs baby...we found out that he was downs when my daughter was 71/2 months preg...not only was he downs...but that he also had  non immune hydroxs has be hard...but i would not trade on day with my g-baby...we have had many set backs but we have also had many many break trough's....he is 11 months old... he weighs a whooping 13 pounds....he only weighed 4 pounds at birth.....he can not sit alone...doesn't crawl...but we DO NOT focus on what he can not do only on what he CAN DO...for 2 months...he learned to roll from back to front....then from front to back...he now rolls EVERY WHERE....cant keep up with him 7 months...he starting using his vocal abilities...of course finding the one sound that would get on everyones nerves he babbles all the time....this after being told that he would have a hard time or may not talk at all....I have been making the Kissie face at him for two or three months now...he started making the Kissie face last now he is getting the concept of mimicking...he has learn to reach out for things....and just a few days ago he started reaching for the person that he you see never look at what they can not do ...only at the things that they can do....we don't count his chromosome's...we count him as a blessing....
Don't look at what your child may or may not have...look at what you have....your child will teach you so much...if you allow her to work at her on g-baby has taught me so much....Don't tell him that he cant...he will show you that he can...just in a different way....Understand this....A special needs baby requires special people in their lives...YOU were the one chosen......" I know I'm special....I have a special needs G_baby"....Good luck and I wish you the best....but If you allow your self to be consumed with all of the negative things that are to come your way....then this path will be a hard road to walk on....see the good...and know that your child is not only your child but your strength...your joy...your heart...your teacher...and your world...make her world worth living in....

G-ma of a downs baby...
by on Jun. 28, 2007 at 6:50 PM
Thanks everyone for your words of encouragement!  Well, we went to the geneticist this morning and got the news we've been waiting almost seven months to hear!!!  OUR BABY GIRL IS FINE!!!!!!!!!!!!!  She does have microsephaly (small head) and is under weight for her age (which we were already aware of), but since she's developmentally on target and not delayed in any areas the dr. said she's perfectly fine and there's no need to worry!  WOOO HOOO!!  I can finally breathe.
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