Phocomelia is a rare condition that affects babies at birth. This condition causes the upper or lower limbs of the child to be underdeveloped or missing. Phocomelia can affect one or multiple limbs. This condition can be caused by a genetic syndrome or from exposure to a specific drug during pregnancy.
Phocomelia syndrome is a rare birth defect characterized, in most instances, by severe malformation of the extremities. Infants born with this condition will have arms and/or legs that are severely shortened or sometimes completely absent.
The cause of limb reduction defects is unknown. However, research has shown that certain behaviors or exposures during pregnancy can increase the risk of having a baby with a limb reduction defect. These include: Exposure of the mother to certain chemicals or viruses while she is pregnant.
A baby with congenital amputation can be missing a portion of a limb or the entire limb, which results in the complete absence of a limb beyond a certain point where only a stump is left is known as transverse deficiency or amelia. When a specific part is missing, it is referred to as longitudinal deficiency.
Reports indicate that true phocomelia occurs in 0.62 live births per every 100,000 patients. Approximately half (53.2%) of the cases displayed isolated phocomelia, while 36.9% had additional major congenital abnormalities, and 9.9% of cases correlated with a clinical syndrome.
Sporadic phocomelia is a very rare genetic disorder inherited as autosomal recessive trait or as the result of spontaneous mutations (2). In such cases, there is 25% chance for a child to be affected, provided both parents are carriers.
Inherited as part of a genetic syndrome
Phocomelia is an autosomal recessive trait. It means both parents need to have the abnormal gene in order for a child to have it. In some cases, a spontaneous genetic defect may cause phocomelia.
The exact cause of a congenital limb defect is often not known. Certain things may increase the chances of a child being born with such a defect. These include gene problems or exposure to some viruses or chemicals. Treatment depends on the type of congenital limb defect.
The cause of congenital limb defects is unknown. However, risk factors that may increase the likelihood of a congenital limb defect include the following: Conditions, such as genetic abnormalities, growth restriction, mechanical forces, that affect the baby in the uterus during development.
What is it? Dysmelia is a congenital abnormal process, characterised by the absence or severe malformations of the body's extremities, in some cases associated with other cardiovascular, skin, genitourinary or gastrointestinal malformations, caused by an abnormal metabolism during embryonic development.
The ultrasound can show limb malformations or missing limbs.
Caudal regression syndrome can affect your child's ability to pee and poop. If your child receives a CRS diagnosis, they may need help going to the bathroom. Your child's healthcare provider will offer possible treatment options to help your child by: Inserting a catheter to remove urine from their body.
If you mean realistically with 2010 technology then you could live without all your limbs, part of your trunk and digestive system (life is possible with much reduced stomach and intestines), heart and lungs (replaced by machines), kidneys (dialysis), appendix, teeth, hair, and quite a few other bits.
IUGR stands for intrauterine growth retardation. This means that your baby is growing slowly and doesn't weigh as much as your doctor expected for this stage of pregnancy. If your unborn baby weighs less than most babies at this stage, your baby might have IUGR.
Answer From Yvonne Butler Tobah, M.D. A blighted ovum, also called an anembryonic pregnancy, occurs when an early embryo never develops or stops developing, is resorbed and leaves an empty gestational sac. The reason this occurs is often unknown, but it may be due to chromosomal abnormalities in the fertilized egg.
By week 5 their heart and blood vessels are just starting to form. By week 7 their heart's started to beat. Tiny buds are developing that will become their arms and legs. By the end of the week 8, your baby has tiny hands and feet with webbed fingers and toes, and their lungs have started to grow.
Applicants will automatically be considered disabled if they've suffered the amputation of both hands; a hemipelvectomy or hip disarticulation; amputation of a lower extremity at or above the ankle with complications that make it impossible to use a prosthetic device to walk; or the amputation of one hand and one lower ...
amelia: Medical term for the congenital absence or partial absence of one or more limbs at birth. Amelia can sometimes be caused by environmental or genetic factors.
Below-knee amputations are the most common amputations, representing 71% of dysvascular amputations1; there is a 47% expected increase in below knee amputations from 1995-2020.
Led by a team of authors, the study found that thalidomide actively degrades several C2H2 zinc finger transcription factors, including a cell protein known as SALL4. Without SALL4, cells are unable to fully develop which inhibits a foetus's ability to grow limbs and other important organs.
Ronan Tynan was born with phocomelia. He became a track and field athlete, competing in the 1984 and 1988 Summer Paralympics. Tynan went on to a career as a physician, and later, a singer. Ame Barnbrook was born without arms and only the lower half of her left leg, and three toes.
Individuals who carry a mutation in the gene for SALL4 are often born with missing thumbs, underdeveloped limbs, eye and ear defects, and congenital heart disease – problems which mirror those in children exposed to thalidomide in the womb.
It is widely believed that as many as 100,000 babies were affected by the drug in total. It is generally estimated that over 10,000 babies were born worldwide and today fewer than 3,000 survive.
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in about half of all people with Roberts syndrome.
Given a life expectancy of 19 years, Mandy was one of more than 10,000 babies worldwide born with a disability caused by the drug thalidomide. Thalidomide was prescribed during pregnancy to ease morning sickness before it was withdrawn in 1961 because it was causing birth defects.