Description, Causes and Risk Factors:
Aglossia adactylia is characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations. It was first described in 1932, but in 1950 Hanhart described three cases of aglossia with associated limb defects and gave his name to the syndrome.
The etiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out.
The exact cause of Aglossia-adactylia syndrome is not known. Cases tend to occur randomly, with no apparent cause (sporadic). Some researchers believe that the disorder, which has been reported in the children of blood relatives (consanguinity) in a number of cases, may be inherited as an autosomal recessive genetic trait.
Some clinicians theorized that the defect in development responsible for Aglossia-adactylia syndrome may occur when there is an interruption of the necessary blood supply to the parts of the embryo that eventually develop into the arms, legs, hands, and feet (the limb buds); the tongue; the mouth and jaw area (Meckel's cartilage); and, possibly in some cases, parts of the brain. It is projected that a clot has formed within a blood vessel (thrombus) or has traveled through the blood stream and become lodged in a vessel (embolus) is responsible for the interruption of blood flow. Such a clot may result from exposure of the embryo to certain drugs taken during pregnancy that decrease blood flow (hypoperfusion) through particular organs or a clot could result from the death of another embryo in the uterus that was originally formed from the same fertilized egg (discordant monozygotic twins).
Aglossia-adactylia syndrome is a very rare developmental disorder that affects males and females in equal numbers. Fewer than 1 in 20,000 children are affected with this disorder.
The following symptoms are very frequently seen in Aglossia-adactylia syndrome:
Micrognathia/retrognathia (small jaw, and deeply receding jaw).
Partial absence of mandible.
High vaulted/narrow palate.
Terminal hypoplasia of fingers (Incomplete or missing fingers).
Terminal hypoplasia of toes (Incomplete or missing toes).
Oligodactyly/adactyly (missing fingers).
Upper limb-transverse elements missing.
Thin, hypoplastic hyperconvex fingernails.
Microstomia (small mouth).
Diagnosis includes medical and laboratory examinations including clinical tests to determine the enzyme tyrosine aminotransferase in the body.
Because early recognition of Aglossia-adactylia syndrome can lead to early diagnosis and treatment, education of nurses in perinatal, paediatric, midwifery, and neonatal specialties is crucial.Nurses can offer anticipatory guidance and provide resources to parents of children with this condition.
The treatment of Aglossia-adactylia syndrome requires the coordinated efforts of a team of specialists. Pediatricians, plastic and orthopedic surgeons, dental specialists, speech pathologists, physical therapists, and others must systematically and comprehensively plan the child's treatment.
Treatment is supportive and will include physical, psychological and educational resources:
Children with Aglossia-adactylia syndrome usually benefit from physical and speech therapy to improve their gross motor skills and coordination, and to gain better control over speaking and eating.
Occupational and sensory integration therapies are also beneficial.
Infants sometimes require special bottles or feeding tubes to maintain sufficient nutrition.
NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
Sometimes it is difficult to have a bowel movement. Bowel movements range is different for everyone. However, movements from three times per week up to three times per day are considered as healthy. There are some natural methods that can help a person poop. Below,...
A team of scientists from the University of California identified a gene that may play role in preventing heart disease. The gene, called MeXis, acts within key cells inside clogged arteries to help remove redundant cholesterol from blood cells. The gene MeXis was...
Quiz about this article
0 of 2 questions completed
Please answer on few questions to make our service more useful
You have already completed the quiz before. Hence you can not start it again.
Quiz is loading...
You must sign in or sign up to start the quiz.
You have to finish following quiz, to start this quiz:
0 of 2 questions answered correctly
Time has elapsed
You have reached 0 of 0 points, (0)
Question 1 of 2
Was this article useful for you?Correct
Thanks for your feedback!Incorrect
Thanks for your feedback!
Question 2 of 2
What else information about this disease you want to know ?Correct
Thanks for feedback!Incorrect
Thanks for feedback!
Many people spontaneously decide starting to do sport, while others weigh all the pros and cons for a log time. But almost all of them make the same mistakes, listening to the advice of non experts. There are 10 anti-tips for those who want to do plan to do some sport...read more
Spring is not far off and very soon you will see many people riding a bike. It's worth to join them and now we will give you the 8 reasons why. Weight control Scientists of the University of Surrey (England) found that it's enough riding a bike for an hour, and, not...read more
We all want to get in shape and keep fit. But not everyone has time for visiting the gym. Give up the elevator. Give up lifts and climb the stairs. At work, at home, at the mall. This simple advice is a great benefit if you follow it daily. Climbing the stairs...read more