the syndrome in my previous post is called
anhydrotic ectodermal dysplasia-it's affecting the ectoderm
so in that child case, he's definitely hairless,
the skin is somewhat pale and thin
and the other thing is he cant control his temperature
n guess what they suggest??
try living in the cold country!
they might go developing seizure and end up with brain damage
if the temperature is too high
they dont have the normal temperature regulator as we do
because they dont sweat so yes no way of reducing the temperature
and they are prone to infection so explained the many
many tablet he's on

i saw another new rare syndrome this week
the child has rubinstein-taybi syndrome
most of the cases were diagnosed by the broad thumbs/great toes
as the facies are not obvious when they are still young
the disorder is due to the deletion of 16p13.3
her face show the features of the syndrome
like beaked nose,
ptosis, small maxilla, microcephaly,
small mouth with crowded irregular teeth, high palate, n
short upper lip
the great toes and the thumbs have some deviation as well
she has a delayed in speech
but she seems friendly enough to let us come near her
and played with us hehe

i didnt go in with dr.G this time so i probably missed
other interesting patients she has

i need to finish my case now ;)