*Here are the details in a
nutshell:
Popliteal Pterygium
Syndrome is an autosomal dominant genetic disorder occurring in approximately 1
out of every 300,000 births. It is extremely rare.
The most common birth
defects associated with this syndrome are: (please forgive me if these don't
make a whole lot of sense, I'm translating medical terminology and am not sure
how good I'm doing)
Cleft lip and palate,
salivary lip pits in the lower lip (Daniel did have these too, they were removed
at the time his lip was repaired)
Intraoral tissue bands -
bands of skin which inhibit full opening of the mouth (Daniel had these, they
resolved themselves a few days after birth when he opened his mouth for one
LUSTY cry)
Fused digits (fingers or
toes - Daniel's small toes are all fused together)
Digital Reduction Defects
[missing fingers/toes or fingers or toes that are in place but completely
dysfunctional - Daniel's big toes on both feet are dysfunctional, and one - or
both, (I'm shooting for just one because I think his right toe will be OK) will
need to be removed]
Genital anomalies (cryptorchidism/hypoplasia/misplaced
or absent scrotum - Daniel's testicles are attached to his thighs and one teste
is not descended)
Popliteal pterygium
(webbing behind the knee anchored by a thick cord running from the patient's
bottom to the ankle)
Webbing between the legs
(Daniels does NOT have this)
Unilateral or Bilateral
clubfoot (Daniel has bilateral clubfoot and the worst kind, something they
call equinovarus, which means his feet are turned completely in and the bottom
of his feet face entirely inward)
Nail anomalies (there is a
pyramidal fold of skin over the toe nails, Daniel has this and we're thinking
his nail beds will have to be removed to prevent problems in the future)
Spina Bifida Occulta (I'm
still researching this one, but basically I think it is a narrowing of the
spinal column.)
Basically, it is inherited
from one of the parents and usually the parents exhibit one or more of the above
anomalies. What makes this extremely frustrating for Ken and I is that neither
of us do and no one in the family does either.
