Holoprosencephaly
7
Maggidd I aa a 1 1 1 i in aegg
egg
taga i a a a a a'ÉaBd
The difference in the mutations are in the
pictures shown
This baby has Lobar holoprosencephaly
The baby has alobar Holoprosencephaly
But there is a sad side
to holoprosencephaly,
the babies born with
cyclopia, don’t survive
early infancy,
Some of the side effects from the main
holoprosencephaly
Developmental delay.•
Intellectual disability.•
Epilepsy and seizures.•
Small head (microcephaly).•
Large head (macrocephaly).•
Excessive fluid in their brain (hydrocephalus).•
Facial abnormalities.•
Tooth abnormalities (single central incisor).•
Cleft lip and/or palate.•
Pituitary gland•
Problems regulating body temperature, heart•
rate and breathing.
Feeding difficulties•
As you can see, all these babies are
still the adorable babies you see
everyday their just.. different.
As
É
0
To date, seven genes have been positively
implicated in HPE: Sonic hedgehog (SHH),
ZIC2, SIX3, TGIF, PTCH, GLI2 and TDGF1
This is the survival rate of
alobar holoprosencephaly
Only 50% of patients with
alobar HPE will survive by
4-5 months of age. Only
20% of these cases will
survive by 12 months of age.
Holoprosencephaly can be
caused by genetic changes in
any of at least 14 different
genes; chromosome
abnormalities; or agents that
can cause birth defects
(teratogens). It may also be a
feature of several unique
genetic syndromes. In many
cases, the exact cause is
unknown.
These are all the survivors of
holoprosencephaly
Nonsyndromic holoprosencephaly is an
abnormality of brain development that
also affects the head and face.
Holoprosencephaly can be
survived!
But, holoprosencephaly can be detected
from 11–12 weeks
While there is no cure for HPE, treatment is
symptomatic and supportive. Some symptoms and
conditions caused by HPE are as follows: cyclopia,
median cleft lip and palate, seizures, missing front
teeth, closley set eyes, small head, multiple hormone
deficiencies, feeding difficulties, developmental delays
and more, there is no cure for holoprosencephaly yet
Holoprosencephaly is in both males
and females but it’s not diagnosed
like ADHD is, your born with it so you
can’t develop it over time
It