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Congenital amputation is birth without a limb or limbs, or without a part of a limb or limbs.
It is known to be caused by blood clots forming in the fetus while in utero (vascular insult) and from amniotic band syndrome: fibrous bands of the amnion that constrict foetal limbs to such an extent that they fail to form or actually fall off due to missing blood supply. Congenital amputation can also occur due to maternal exposure to teratogens during pregnancy.
The exact cause of congenital amputation is unknown and can result from a number of causes. However, most cases show that the first three months in a pregnancy are when most birth defects occur because that is when the organs of the fetus are beginning to form. One common cause is amniotic band syndrome, which occurs when the inner fetal membrane (amnion) ruptures without injury to the outer membrane (chorion). Fibrous bands from the ruptured amnion float in the amniotic fluid and can get entangled with the fetus, thus reducing blood supply to the developing limbs to such an extent that the limbs can become strangulated; the tissues die and are absorbed into the amniotic fluid. 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. Finally, phocomelia occurs when only a mid-portion of a limb is missing; for example when the hands or feet are directly attached to the trunk of the body. Amnion ruptures can be caused by:
- teratogenic drugs (e.g. thalidomide, which causes phocomelia), or environmental chemicals
- ionizing radiation (atomic weapons, radioiodine, radiation therapy)
- metabolic imbalance
Congenital amputation is the least common reason for amputation, but it a study published in BMC Musculoskeletal Disorders found that 21.1 in 10,000 babies were born with a missing or deformed limb between 1981 and 2010 in the Netherlands, and the CDC estimates that 4 in 10,000 babies are born in the United States with upper limb reductions and 2 in 10,000 with lower limb reductions. During certain periods in history, an increase in congenital amputations has been documented. One example includes the thalidomide tragedy that occurred in the 1960s when pregnant mothers were given a tranquilizer that contained the harmful drug, which produced an increase in children born without limbs.
Diagnosis and treatment
For most cases the diagnosis for congenital amputation is not made until the infant is born. One procedure that is helpful in determining this condition in an infant is an ultrasound examination of a fetus when still in the mother's abdomen as it can reveal the absence of a limb. However, since ultrasounds are routine they may not pick up all the signs of some of the more subtle birth defects. The most popular method of treatment for congenital amputation is having the child be fit for a prosthesis which can lead to normal development, so the muscles don't atrophy. If there is congenital amputation of the fingers, plastic surgery can be performed by using the big toe or second toes in place of the missing fingers of the hand. In rare cases of amniotic banding syndrome, if diagnosed in utero, fetal surgery may be considered to save a limb which is in danger of amputation.
Studies suggest that prenatal care for mothers during their pregnancies can prevent congenital amputation. Knowing environmental and genetic risks is also important. Heavy exposure to chemicals, smoking, alcohol, poor diet, or engaging in any other teratogenic activities while pregnant can increase the risk of having a child born with a congenital amputation. Folic acid is a multivitamin that has been found to reduce birth defects.
- The term "congenital amputation" is sometimes used loosely to mean "congenital absence".
- Tetra-amelia syndrome- the absence of all four limbs.
- Vasluian E, van der Sluis CK, van Essen AJ, Bergman JE, Dijkstra PU, Reinders-Messelink HA, de Walle HE (November 2013). "Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study". BMC Musculoskeletal Disorders. 14: 323. doi:10.1186/1471-2474-14-323. PMC 3840683. PMID 24237863.
- "Upper and Lower Limb Reduction Defects". Centers for Disease Control and Prevention. 2018-04-20. Retrieved 2018-09-12.
- Gabos PG (May 2006). "Modified technique for the surgical treatment of congenital constriction bands of the arms and legs of infants and children". Orthopedics. 29 (5): 401–4. PMID 16729738.
- Walter JH, Goss LR, Lazzara AT (July–August 1998). "Amniotic band syndrome". The Journal of Foot and Ankle Surgery. 37 (4): 325–33. PMID 9710786.
- Light TR, Ogden JA (May–June 1993). "Congenital constriction band syndrome. Pathophysiology and treatment". The Yale Journal of Biology and Medicine. 66 (3): 143–55. PMID 8209551.
- "Congenital amputation". The Free Dictionary.