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Down syndrome

Symptoms / Clinical features

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Down syndrome is a complex pathological condition with a range of phenotypic, clinical and biochemical features.

Phenotypic features include-

• Flat facial profile

• Mongoloid eyes/upslanting palpebral fissures

• Epicanthic folds

• Snub nose

• Protruding tongue

• Short ears

• Small chin

• Dermatoglyphic changes (simian palmar crease)

• Gap between the first and second toes

• Decreased muscle tone (hypotonia)

• Loose skin on the posterior part of the neck

• Short /thick hands and feet
 
Clinical features-

• Delayed milestones

• Premature birth/microceplalia at birth

• Delayed brain growth

• Visual/auditory defects

• Congenital heart defects

• Duodenal atresia

• Gastroesophagal reflux disease

• Hirschsprung disease

• Acute Leukemia

• Poor reflux

• Hypothyroidsm

• Obstructive sleep apnea

• Dysplastic pelvis

• Dementia/premature ageing

Biochemical features-

• Thyroid dysfunction –hypothyroidism

• Over expression of enzymes such as Super Oxide Dismutase

• Ammonia / Uric acid accumulation

• Immune dysfunction

• Poor lipid metabolismAll the above features may not be present in one single individual but many of them, in various combinations will be present.


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If you have a question about health related issues, you can now post it in our Ask An Expert section on our community website Medwonders.com and get answers from our panel of experts.
Posted by:  johncenawwe  Posted on: 04/18/2012
Yes, If we diagnosis the down syndrome at early stage we can improve the Longevity and Metformin also a good medicine in this same category who treats Type II diabetes and effective in weight loss treatment also.



Posted by:  sanjitta  Posted on: 08/23/2011
mr Ram, i am a new member,i found your words nothing is impossible in this fast developing world, gives me more confidence



Posted by:  Rammohan.R  Posted on: 06/10/2011
Physio therapy,speech therapy, occupational and behavioural therapies are needed to speed up the mile stones in the growth of DS children. Homoeo treatment also helps in improving their brain related functioning.DS children will be very affectionate and very cute. Treatment/therapies should be started as early as possible to get better results. Hope, a day will come, when Down Syndrome in children and adults will be permanently cured. Nothing is impossible in this fast developing world because of the technological innovations made possbile by computers etc.




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