I have photo's of her eyebrows and hands if you could take the time and tell me what you think. The outer edges grow in a V, but grow downward. My daughter was born with medical issues. Cyanosis, Apnea, Bradycardia, Seizures, Bleeding in the brain, hypo tonic, suck-swallow-breath problems. I have been told that she has all these symptoms that belong to different syndromes, but not enough to one particular one. She has uncontrolled epilepsy that isn't getting better. She is on 32 pills a day 5 different seizure meds. The Dr.'s have measured her in different areas there are abnormalities. The problem is she is very tall for her age. Bone growth age at 8yrs was over 2 1/2 advanced. When she makes a fist you don't see the knuckles only the big one. Thank you for your time. I hope someone might have some suggestions.
tall for age. bone growth age done at 8yrs old was over 2 1/2yrs. advanced
4th finger short
dimples over knuckles hands flat. Makes a fist only middle knuckle visible.
obese large since birth
intermittent lactic acidosis
apnea since birth
developmental problems immature
intermittent thyroid function abnormalities
elevated Lipoprotein A 170
when she was younger they said her genitalia was small for age. I don't know now.
hypo-tonic/ and hyper-tonic muscles-skin were like dough, but she arch all the time.
abnormal deformed extra teeth surgically removed.
brakes or sprains ankles often
It sounds like your daughter has a lot going on. It may be possible that one genetic condition may account for the different features that you have described. Searching for a diagnosis is difficult and if found, a diagnosis can help provide information about management, what to expect for the future, and implications for other family members, too.
You may have already pursued this, but it is important for your daughter to also see a medical geneticist in addition to having genetic testing done. A medical geneticist will often perform a detailed physical exam that can guide the genetics tests ordered. You can find a medical geneticist through the American College of Medical Genetics website.
Even after pursuing all of the recommended tests, there still may not be an answer right now, but genetics is a rapidly changing field, and you may want to follow-up with your medical geneticist on a yearly basis to stay updated. Best of luck to you.
the syndrome comes to my mind is Mccune Albright Syndrome
Facial anomalies (usually round face)
Obesity (hyperriglyceride, hypercholesterolemia, insulin resistance, hyperlipoproteinA can be the result)
Precocius puberty with variety of endocrine dysfunction eg. thyroid, intermittent metabolic acidosis
Bone anomaly: fibrous dysplasia of fourth metacarpals
Obesity and precoccius puberty can cause advance bone age
Does she have any bone problem like frequent bone fracture, bow legs? This is not necessary.
If yes--> Mc cune Albright (Psueohypoparathyroidism with anomaly)
If no--> Pseudopseudohypoparathyroidism
look for brwonish skin patch called Cafait aulait spot
Other syndrome with short fourth metacarpal is PallisterHall syndrome that have polydactyly (many fingers) and shorth fourth metacarpals with hypothalamic harmatoma that will cause headache, epilepsy, precocius puberty, but not common developmental dealy.
Can you send me her picture?
Thank you for you input. The only thing all the Dr.'s say is she is too tall for most syndromes. I did look up Prader-Willi Syndrome. She does have a lot of those issues all the way down to the Temper Tantrums which I have let the Dr's know. They are not worried about the Tantrums although I think she is a little old for that. I am going to ask for another appt. with the genetic clinic. I don't think they have ever done any genetic testing on her. Thank you Lisa
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