Genetic Disorders Expert Forum
Growing concerns over daughter
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Growing concerns over daughter

My daughter has been undergoing many tests to determine the causes of her problems.  Here is her history.

Born on 30 August at 35 weeks, 4lb 12.5 oz 16.5in
Probable IUGR (no confirmation as she was born before 2nd growth scan)
Healthy pregnancy
Newborn screening normal - no NICU stay
Slow weight gain - only 13lb 1oz at 1 year - average 1 oz per week gain
Slow growth - not as slow as weight gain - 26.5 inches at 1 year, head circ grew less than 2cm in last 3 months
Hypotonia
Reflux
Hypersensitive gag reflex (outgrowing, not as severe now)
Sagittal Synostosis (surgery at 5 months)
Developmental delays - only rolls to the left, can be propped sitting for only several seconds, no crawling, can't push up on belly, no babbling
Almond shaped eyes, possible epicanthic fold?  Appearance that one eye doesn't work with other, but actually does (shape makes it look like it's in a different position)
Toenails curve under
Holds wrists turned into checks, feet are cocked in at ankle and pointed toes
Slow digestive system

Genetic screenings normal so far (chromosonal and one other large scale screening)
normal thyroid
normal urine/kidney
metabolic screen - only bicarbonate came back as not normal - slightly low
MRI normal

Despite adding high calorie supplement to her baby food, she lost an ounce in the last two weeks.  She is not gaining weight, and is very tiny.  She progresses very slowly developmentally.  

We are waiting results from Prader-Willi and Celiac Disease blood tests.  We will be seeing a pediatric Geneticist on the 3rd of September.  Is there other diseases/syndromes that have similiar symptoms that we should be exploring?
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We are wishing your daughter well and hope her health is improving.

We are glad your daughter is meeting with a pediatric geneticist, a physician that specializes in genetic syndromes. A clinical geneticist will perform a physical exam on your daughter, review her medical history (including all genetic and non-genetic test results) as well as your pregnancy history and family history.

A medical geneticist will look for symptoms and signs that your daughter's problems are due to an underlying genetic syndrome and inform you of which genetic syndromes should be investigated. It appears from your question that a chromosome analysis was performed and normal but we are unsure which genetic conditions were tested for as part of the "large scale screening." Sometimes, as a child ages new symptoms and/or signs appear that can aid in diagnosis.

It can be extremely frustrating going from specialist to specialist and taking test after test when searching for a diagnosis. We hope you and your family are getting the support you need.
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