Does Your Baby Have Warburg Micro Syndrome?

IMG_0202Wondering whether your baby has Micro Syndrome? Statistically speaking, they probably do not. Warburg Micro Syndrome is very, very rare. There are less than 200 known cases since the first article was written in 1993.

Most babies with this syndrome are born with cataracts and small eyes (microphthalmia).  Upon further examination of the eyes, the ophthalmologist notices optic disks that are pale or small. (Optic nerve atrophy) Usually, when trying to dilate the eyes for an ophthalmological exam, the eyes don’t dilate well or take a very long time to dilate at all. Cataract removal will probably be done soon after cataracts are discovered.  The sooner this surgery is done, the higher the likelihood of functional vision for your baby.

If your baby has had an MRI, look for words such as bilateral frontal polymicrogyria and thin corpus callosum or hypoplasia (underdevelopment) of the corpus callosum in the report.  These are not uncommon for a child with Micro Syndrome.

There are also endocrine abnormalities in children with Warburg Micro Syndrome. Boys usually have a very small penis. The medical term for this is micropenis. Testosterone levels may be very low. Girls may have labia abnormalities or not.

Your baby may have high or low muscle tone. This means that the muscles may feel tight or floppy.

There may be some feeding difficulties or difficulty gaining weight in the early years. Feeding difficulties may include problems with swallowing efficiently or not being able to chew well as they get older.

Many of the children with Warburg Micro Syndrome tend to resemble each other. Their small eyes and downturned mouths give them this similar look.

IMG_0016 Kev6

As you can see, both kids are not wearing their glasses (or contact lenses). For us, and I stress this highly, there was no real difference in their visual attentiveness with or without glasses and contacts. They wore them diligently for 3 years and it was a difficult decision to discontinue their use. They never liked the contacts and the glasses were so heavy that their poor little noses were always squished! It is a personal decision though and it is important to know that all WMS kids have different degrees of vision, so please keep that in mind.

Once your doctors start to narrow down reasons for your baby’s developmental delays, you may hear some names of other syndromes. Similar syndromes to WMS include Smith-Lemli-Opitz Syndrome, Septo Optic Dysplasia, Cockayne Syndrome, Congenital Rubella, COFS Syndrome, and Fukuyama Congenital Muscular Dystrophy. All of these syndromes were mentioned to us along the way. Most of them are easily tested for.

There are four known mutations that cause Warburg Micro Syndrome. You can read about them here. If your baby has these characteristics, your doctor may want to do genetic testing. Testing information can be found here. It may take a few months for the results to come back.

In the meantime, enjoy your baby! Take one day at a time and don’t worry too much. (I know, it’s very difficult!) Diagnosis or not, your baby is still the same. Words don’t define.

Stay tuned for my next post: It’s Warburg Micro Syndrome, Now What?

 

 

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