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Dev. Delay, mild facial dysmorphisms, large tongue

by Sara B — last modified Aug 04, 2010 05:22 AM

Updated: Description of my 2 1/2 yr. old daughter's symptoms

Dev. Delay, mild facial dysmorphisms, large tongue

2 1/2 years old - August 2010

My daughter has an undiagnosed genetic syndrome - it is characterized mainly by global developmental delay, mild facial dysmorphisms, moderately low muscle tone, and a large tongue with mid-line groove. She is also large for her age, and had late tooth eruption (16 mos.). No medical or internal issues that we know of. Her hearing and vision are normal (slightly farsighted, but not enough for glasses). She was induced 2 weeks early (11/5/07) for suspected IUGR (growth restriction). But was born 6 lbs, so was 10th percentile after all. Pronounced "floppy" at birth, and had trouble transitioning to breathing because of fluid in her lungs. After a couple hours on a CPAP machine, her breathing was fine, and a heart murmur they'd heard at first had disappeared. She was released with a clean bill of health, though they noted she had a large tongue.

She did not breastfeed well, but took the bottle fine. Had reflux which resolved by 2.5 months. She grew large very quickly, and by 4 months was in the 100th percentile for weight, and has stayed there. She has moderately low muscle tone (esp. trunk). She has some "mild" facial dysmorphisms, enough that, beyond her dimples, her face does not look like our faces:

  • wide-set eyes, whites of her eyes are blue
  • large tongue, with mid-line groove (tongue was almost always out 1st year of life, now at 2+, tongue-control is much improved and it's only out when she's concentrating or tired)
  • mild-to-moderate low muscle tone
  • thickened ear helices
  • flat nose
  • coarse features
  • synophrys (hair between eyebrows)
  • plagiocephaly (square-ish head)
  • mildly tapered fingers
  • One over-sized big toe (big toes evened-out to same size by age 2)
  • Small feet for age (about a year behind in growth)
  • Global developmental delay

Developmentally, she is delayed about 40-50% overall. Gross & fine motor and speech are the most severely delayed. Walked at 30 months, and has about a 70 word vocabulary today at 33 months. Does not yet say two-word phrases. Easy-going, no behavioral issues, attends a typical daycare w/typical kids. Social/emotional are the least delayed. Loves music/sounds. Loves puzzles and books, anything with buttons to press to make music, and watching song videos on YouTube. Very social, smiles readily, likes adult attention during play, upset by other babies' crying. Not a big crier herself, though. Gets tired easily, but only takes 1 short nap during the day (45 mins),  then sleeps a solid 12-13 hr. night.


Significant milestones:

  • Smiles: 8 weeks
  • Sits independently: 7-10 months (but constant falling backwards and throwing herself back at first - eventually overcame that  balance issue)
  • Reaches for toys: 8 mos.
  • Rolls over: 11-14 mos.
  • Drinks from sippy-cup independently & self-feeding: 11-13 mos.
  • Sits up from lying down: 14 mos.
  • 4-point crawling: 16 mos.
  • First teeth: 16 mos. 2 bottom teeth first: a bit small/wide-spaced compared to teeth of typical babies
  • Stranger anxiety: 20 mos.
  • Pulls self up to stand: 22 mos.
  • Says first words, "mama" and "dada" (and num-num for food): 22 mos.
  • Feeds self w/spoon independently: 25 mos.
  • Cruises at table or sofa: 25 mos.
  • Walks independently: 30 months

 

Following tests were normal:

  • Amniocentesis
  • CGH wide-array chromosomal testing
  • Angelman Syndrome
  • Fragile X
  • Metabolic testing
  • Brain MRI showed no significant or insignificant issues,  though some features were "noted", like asymmetry, and her brain not filling up her skull quite as much as expected.
  • Known genetic syndromes involving overgrowth and large tongue have been excluded by geneticists on the basis that she has none of the other symptoms of those syndromes, so has not been tested for those (Beckwith-Weidemann, etc.).

 

Geneticists (Stanford, CA) are out of ideas for now, and we are to come back at age 3, or if she has new significant symptoms. She is in PT, OT, and Speech. Click on her photo to see it in more detail, and let me know if your child looks similar, or has a similar combination of symptoms?

Thank you,
Sara

 



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short differential diagnosis

Posted by Administrator at Apr 25, 2009 08:02 PM
Differential growth of the tongue compared to other structures in the mouth and surrounding facial bones affects the position of the tongue. The tongue grows similarly to neural tissue i.e. the majority of growth occurs early in development. Maxillary bone (upper jaw bone) growth is slower, though similar to the tongue. The mandible (lower jaw bone) grows more slowly than the upper jaw bone with two peaks of growth. One occurs between the ages of 8 -12; the second at puberty.
A large tongue or macroglossia may in this instance be classified by two causes: congenital and metabolic causes.
1) Congenital causes:
a. Cretinism (hypothyroidism)
b. Hemangioma
c. Lymphangioma - see below
d. Robinow Syndrome
e. Beckwith-Weidmann Syndrome (macroglossia, omphalocele, postnatal gigantism, craniofacial abnormalities including maxillary hypoplasia and a prominence of the occiput, hypoglycemia and an increased incidence of Wilm's Tumor, adrenal carcinoma, or hepatoblastoma.)
f. Down Syndrome -- presumably ruled out by the normal karyotype
g. Trisomy 4P Syndrome
h. Triploid Syndrome
i. Any of the Gangliosidoses Syndromes
j. Any of the Mucopolysaccharidoses Syndromes
2) Metabolic causes:
a. Myxedema (hypothyroidism)
b. Amyloidosis
c. Lipoid proteinosis
.
The most common reported cause of macroglossia is lymphangioma, a rare congenital tumor presenting in the first year of life with malformed lymphatic tissue involving the tongue. These tumors grow slowly and are progressive. Unlikely to be associated with the other features of your child but it remains on the list.

Evaluation: The choice of laboratory tests is guided by the clinical findings. Karyotyping or examination of the chromosomes I assume is normal. Though the test may have been done at birth as part of neo-natal screening, exclude hypothyroidism as a cause – it is very easy to treat. (A thyroid scan may reveal a lingual thyroid causing a large tongue if goiter is a clinical feature.)

My final piece of advice -- go to a larger medical center where they see many more cases of genetic disease.

Editor

short differential diagnosis

Posted by Sara B at Apr 28, 2009 03:50 AM
Thank you for a thoughtful read - she had a normal newborn thyroid screening, and a normal amnio. Can you recommend a large center like the one you described? I'm in the SF Bay Area. Thanks again.

some similarities

Posted by Shelly Bommelyn at Jun 25, 2009 08:31 PM
Sara,
My daughter and yours have some very close similarities. Madison is 3 years old. Just learning to walk and still does not talk. She was born with very low muscle tone all over her body and had reflux as well. She actually was not able to eat from her mouth unless it was thick baby food cause she could not control her swallowing. She has had a g-tube since 9 months old. She never learned how to crawl till she was 18 months, sitting on her own at about 1 year. Still learning to self feed with utensils She is in speech and pt right now. She is starting school in the fall so she will get OT,speech, PT and any other serivces possible. She has had 3 different genetics testings since birth and they have all came out normal, 2 were taken by Stanford genetics team. Unlike your daughter she was on the down side for weight. She had a full body bone x ray cause she was growing at fast pace in length. She has sensory issues stills, loves music, does not like being touched in the hands by people she knows or doesn't know. When she was younger she did not like other kids crying and still doesn't if she is close by and hears them. right now she is tested to be delayed by 10-18 months in some categories.

some similarities

Posted by Sara B at Jul 15, 2009 05:54 AM
Thank you, Shelly, for your comment. I don't know anybody with a child with Dev. Delay, so it feels good to hear from someone going through something similar. I wonder if your daughter has any unusual facial characteristics the way mine does? And has her developmental delay stayed at about the same rate since she was first evaluated. I'm just trying to figure out what to expect as my daughter gets older. I know, it's the million dollar question with all these children, but just wondered what you've experienced. I don't really expect to get a diagnosis anytime soon - there have been so many tests, and from what I read on various forums, there are many kids with Global Dev. Delay and hypotonia and no diagnosis. Thanks again - BTW, I'm in Mt.View.

Dev. Delay, mild facial dysmorphisms, large tongue

Posted by Dawn Schaller at Sep 15, 2009 07:24 AM
Sara, have the doctors considered Hurler Syndrome? My cousin was suspected of having it and she looked a lot like your daughter (especially when she was a toddler). My cousin also had very long curly eyelashes...

Dawn

Dev. Delay, mild facial dysmorphisms, large tongue

Posted by Sara B at Jan 07, 2010 05:03 AM
Thanks, Dawn - I am familiar w/Hurler but the Geneticists we've talked to do not suspect Hurler. And the metabolic testing she's had has come back normal. While she does have long lashes (though not curly), cognitive delay, and some of the facial characteristics of Hurler, she does not have any of the main the symptoms associated w/Hurler (i.e. Abnormal bones in the spine, claw hands, cloudy corneas, deafness, halted growth, joint disease, etc.).

Thank you for your response. -Sara

just thinking aloud!

Posted by Manjola Broadhead at Jul 09, 2010 11:42 AM
I work in the area of Neuro-disability in the UK and I would like to raise the issue of medical assumptions. Your daughter has a plethora of symptoms. There are 2 medical adages; the first is Occam's Razor, 'entities must not be multiplied beyond necessity', also often referred to when you hear hooves, think horses not zebras. However there is also Hickam's dictum, which is as follows 'Patients can have as many diseases as they damn well please'.

So here is my thought, given that there is a lot of symptoms and there is a lack of a unifying diagnosis.

Perhaps you should look towards 2 genetic causes rather than one.

For example I carry Tay Sachs (from my jewish maternal line) and a form of thallassemia from my Arab Muslim father, so I am just so lucky!!!

Good luck

just thinking aloud!

Posted by Manjola Broadhead at Jul 09, 2010 11:42 AM
I work in the area of Neuro-disability in the UK and I would like to raise the issue of medical assumptions. Your daughter has a plethora of symptoms. There are 2 medical adages; the first is Occam's Razor, 'entities must not be multiplied beyond necessity', also often referred to when you hear hooves, think horses not zebras. However there is also Hickam's dictum, which is as follows 'Patients can have as many diseases as they damn well please'.

So here is my thought, given that there is a lot of symptoms and there is a lack of a unifying diagnosis.

Perhaps you should look towards 2 genetic causes rather than one.

For example I carry Tay Sachs (from my jewish maternal line) and a form of thallassemia from my Arab Muslim father, so I am just so lucky!!!

Good luck

Similar features

Posted by Sara Waddington at Jul 12, 2010 02:21 PM
Hi Sara,
I noticed that our Daughter have similar charecteristics Halle is 3 years old with Global development delay and hypotonia and mild dysmorphic features she is large for her age 100th percentile. She has a wide nasal bridge, wide set eys thickend and dented helices with corse facial fetures, she had a large tounge with mid line groove but tounge has reduced with age.
She also loves music puzzles and book and dislikes children crying or laughing. She has low muscle tone especially the trunk. We have no Diagnosis for Halle after many tests including genetic and metabolic. I looked at the photo of your daughter and she does look quite similar to Halle. Would love to hear how she is doing and if your any futher with getting diagnosed

Similar features

Posted by Sara B at Aug 04, 2010 05:57 AM
Thank you, other Sara! You are the first person I've run across to have a child with so many similarities - it gave me chills to read about your daughter's similarities. We first noticed Tate's developmental delay around 4 months, when she failed to reach out for any toys and showed no signs of rolling over, but the large tongue had been a concern even before that.

Tate is now 33 months, finally started walking a couple months ago - her legs are quite wide apart when she walks, giving her a bit of a drunken gait, but improving over time. Still lots of falling down, though. She also has always sat in an extremely wide stance - almost in the splits. We have a pair of lycra bike shorts sewn together in the middle that train her to keep her legs closer together - I am supposed to have her in them for an hour or two a day...but I am bad about it because she looks so confused when they inhibit her movement that I feel guilty for confusing her. We are in the process of ordering something called TheraTogs, which is a lycra top & pants kids can wear under their clothes - the suit helps kids with low muscle tone to feel less floppy and is supposed to improve the quality of her walking/movement. It was recommended by her PT and is 90% covered by our PPO insurance. The final "assistive device" we are about to start using is a pair of orthodics in her shoes - they are minimal and don't even come up over the ankle, but are supposed to help her not turn her weaker leg/foot inward when she walks. Her left side is a bit weker than her left, which was noticeable when she learned to sit up, crawl, and stand - the left side always came later than the right in those activities. The orthodics are not covered by most insurance, but can be ordered online for about $50 - the PT measures the child's foot and gives you the sizing info.

She has about a 70 word vocabulary. We are trying to get her to say two word phrases now, but not too much progress there yet. She loves to play in water (putting her face in it mostly), look at books/be read to, and loves rhyming and singing. One of her favorite things is to watch YouTube videos of toddler songs. She is starting to repeat some of the words while she watches them. She also loves requesting songs in the car form her favorite CD. That part drives us a little bit bonkers - how many times can a person really sit through "This Old Man" and stay sane...I guess we'll find out :)

As for a diagnosis, we are no further along. Our geneticist brought Tate's picture & description to a conference she attended, but her symptoms/look did not ring any bells with any of the other geneticists there. Most syndromes seem to have some larger medical or physical anomaly associated with them than just "mildly dysmorphic facial features"...I think she is a bit of a mystery to them in that she does not. I had worried that she would develop seizures at some point, because that's another common symptom in syndromes, but so far she does not. She does roll her eyes back in her head when she is very tired/falling asleep sometimes, but I think it is just loss of eye muscle control when she is exhausted - it isn't accompanied by any other symptoms of a seizure.

Would love to hear more about your daughter and/or see a picture - feel free to email me if you like - saraburge@yahoo.com.