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Dr. Andrew Rynne
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Dr. Andrew Rynne

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Exp 50 years

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Both Children Born With Extra Finger, Widened Nasal Bridge, Broad Thumbs, Small Hips, Small Structure, No Muscle Mass, Shorter Neck. Signs Of Acrocallosal Syndrome?

I think my two kids have acrocallosal syndrome .. My 3yr old was born with extra finger ,widen nose bidge,no muscle mass,broad thumbs,small hips,small statured,And ridge in middle of his forehead .He can say few words but not so very well and very hyper.. I have 6 month old that was born with encephalocele and had surgery..she was also bon with extra big toe thats attached to the other big to that turns outword,widen nose bridge,to me looke like she has smal hips, and her neck vertabrea didnt fuse all the way..kinda has shorter neck.. What do you think of all of this?? and what do i need to know?
Mon, 9 Jul 2012
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Orthopaedic Surgeon, Hand Surgery,  's  Response
hi
welcome to hcm forum
The Acrocallosal syndrome is a multiple congenital anomalies with mental retardation. It is a
autosomal recessive inheritance , thus there is a 25% chance of the next child being effected.Genetic counseling is of prime importance and antenatal diagnosis can be attempted by mutation analysis and antenatal ultrasound.

i would advised you meet paediatrician , neurologist and orthopaedics for furthur management

wish you good health
DR ROSHAN
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Both Children Born With Extra Finger, Widened Nasal Bridge, Broad Thumbs, Small Hips, Small Structure, No Muscle Mass, Shorter Neck. Signs Of Acrocallosal Syndrome?

hi welcome to hcm forum The Acrocallosal syndrome is a multiple congenital anomalies with mental retardation. It is a autosomal recessive inheritance , thus there is a 25% chance of the next child being effected.Genetic counseling is of prime importance and antenatal diagnosis can be attempted by mutation analysis and antenatal ultrasound. i would advised you meet paediatrician , neurologist and orthopaedics for furthur management wish you good health DR ROSHAN