Ectrodactyly. Lobster-claw syndrome. Split hand/foot malformation.
The word ectrodactyly comes from the Greek word ektroma, which means
abortion and daktylos, which means finger; so it literally means,
abortion (of a) finger. It occurs in 1 out of every 90,000 live births
and was first described in 1936. The physical appearance is due to,
“median clefts of the hands and feet and aplasia/or hypoplasia of the phalanges, metacarpals and metatarsals.” In other words, some fingers and toes are fused or missing.
Previously, we talked about how inheriting two recessive genes can
cause a blood disorder that makes people appear blue. In this case, the
familial form of Ectrodactyly, a very intriguing congenital defect of
the hands and feet, is usually caused by an autosomal dominant gene
disorder. Named Split-hand/foot-malformation (SHFM), it may also present
with some other characteristics such as “ectodermal dysplasia, cleft
lip and palate, and tibial, genitourinary, and other anomalies of
ectodermal origin.” The genes responsible for limb formation in utero
have mutations on them that fail to construct the molecules that command
the cells to differentiate.
Occasionally, amniotic bands in
utero cause this condition and the deformity is only seen on one hand.
Fortunately, people with this condition can lead normal lives, despite
this physical abnormality. Highly successful radio host Bree Walker was
born with Ectrodactyly, and she is an advocate for people with
disabilities.
http://www.ncbi.nlm.nih.gov/
http://drugline.org/img/term/
http://drugline.org/medic/
http://www.jultrasoundmed.org/
http://
Ectrodactyly. Lobster-claw syndrome. Split hand/foot malformation.
The word ectrodactyly comes from the Greek word ektroma, which means abortion and daktylos, which means finger; so it literally means, abortion (of a) finger. It occurs in 1 out of every 90,000 live births and was first described in 1936. The physical appearance is due to, “median clefts of the hands and feet and aplasia/or hypoplasia of the phalanges, metacarpals and metatarsals.” In other words, some fingers and toes are fused or missing.
Previously, we talked about how inheriting two recessive genes can cause a blood disorder that makes people appear blue. In this case, the familial form of Ectrodactyly, a very intriguing congenital defect of the hands and feet, is usually caused by an autosomal dominant gene disorder. Named Split-hand/foot-malformation (SHFM), it may also present with some other characteristics such as “ectodermal dysplasia, cleft lip and palate, and tibial, genitourinary, and other anomalies of ectodermal origin.” The genes responsible for limb formation in utero have mutations on them that fail to construct the molecules that command the cells to differentiate.
Occasionally, amniotic bands in utero cause this condition and the deformity is only seen on one hand. Fortunately, people with this condition can lead normal lives, despite this physical abnormality. Highly successful radio host Bree Walker was born with Ectrodactyly, and she is an advocate for people with disabilities.
http://www.ncbi.nlm.nih.gov/
http://drugline.org/img/term/
http://drugline.org/medic/
http://www.jultrasoundmed.org/
http://
The word ectrodactyly comes from the Greek word ektroma, which means abortion and daktylos, which means finger; so it literally means, abortion (of a) finger. It occurs in 1 out of every 90,000 live births and was first described in 1936. The physical appearance is due to, “median clefts of the hands and feet and aplasia/or hypoplasia of the phalanges, metacarpals and metatarsals.” In other words, some fingers and toes are fused or missing.
Previously, we talked about how inheriting two recessive genes can cause a blood disorder that makes people appear blue. In this case, the familial form of Ectrodactyly, a very intriguing congenital defect of the hands and feet, is usually caused by an autosomal dominant gene disorder. Named Split-hand/foot-malformation (SHFM), it may also present with some other characteristics such as “ectodermal dysplasia, cleft lip and palate, and tibial, genitourinary, and other anomalies of ectodermal origin.” The genes responsible for limb formation in utero have mutations on them that fail to construct the molecules that command the cells to differentiate.
Occasionally, amniotic bands in utero cause this condition and the deformity is only seen on one hand. Fortunately, people with this condition can lead normal lives, despite this physical abnormality. Highly successful radio host Bree Walker was born with Ectrodactyly, and she is an advocate for people with disabilities.
http://www.ncbi.nlm.nih.gov/
http://drugline.org/img/term/
http://drugline.org/medic/
http://www.jultrasoundmed.org/
http://
No comments:
Post a Comment