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What is AEC Syndrome?
AEC Syndrome is the acronym for Ankyloblepharon- Ectodermal defect - cleft lip/ roof of the mouth ( AEC ) syndrome . It is additionally termed as the Hay - Wells Syndrome or Ankyloblepharon- ectodermal dysplasia- cleft sass syndrome or Rapp- Hodgkin syndrome . It is characterized by the abnormal development of human body tissues predict ectodermal tissues and includes skin , nails , teeth , hair and sweat glands . AEC Syndrome is generally transmitted to the child through the parent ’s genes . AEC Syndrome is due to the TP63 i.e. Tumor Protein 63 factor ’s lack .
Categories of AEC Syndrome
AEC Syndrome can affect the human soundbox under the following categories :
Frequency of AEC Syndrome
According to research in the United States , 1 out of every 100,000 newborn infant in the US faces ACE Syndrome . This is a rare causa in the United States .
Causes of AEC Syndrome
AEC Syndrome is mainly due to the absence seizure or lack of shaping of a particular type of gene known as Tumor Protein 63 ( TP63 ) gene . These factor hold a very important role in the formation and exploitation of ectodermal structures and also in the performance of various body part . The TP63 factor contain proper encoding known as synthesizing of p63 protein which is responsible for for proper growth and ontogeny of various soundbox component such as the nose , optic , cutis , and so on . absence seizure or lack of these proteins may result in the person facing AEC Syndrome of that particular body part who ’s deficiency is been confront by the body . allot to research , 70 % if AEC Syndrome encounter to people with no kinsperson story , while the remaining 30 % communicate AEC Syndrome from the dominant genetic disorder of their parents[1 ] .
Affected Areas and Specific Targets in AEC Syndrome
AEC Syndrome mainly targets nails , scalp , skin , heart , nose , ear , teeth , lips and other body function . They have easy recognition and one can clear diagnose the disease through notice . Various treatments are available to treat the disease bet upon the area move . AEC Syndrome can not be prevented because it is transmitted but one can get specific checkups and genetical treatments done to have it off whether the tiddler is about to face the same problem and can decide whether they want the maternity or not . In detail :
Signs and Symptoms of AEC Syndrome
Since the disease is not very common , there is a huge amount of variation in the symptoms of the disease . Majority of the symptom of the AEC Syndrome are visible during the puerility of the affected mortal mostly after birth . There may be abnormal strands of tissue connecting unlike expanse to each other or peel erosion . For example , the upper eyelid may be connected with the lower eyelid due to the syndrome and this may result in their merger . Other normal symptoms include coughing , modest blood pressure , weakness , dizziness , headache , unnatural perceptiveness , and drowsiness , and so forward . Other symptom admit pathetic nail organisation , poor toenail formation , conductive deafness , Absence of teeth , underdeveloped joy , oval - shaped face , cleft lip , ear misshapenness , tegument wearing away on scalp , broad span of the nose , and so forth .
Prevention of AEC Syndrome
Since the disease is genetically inherit by the child from the parent , there is no such known fashion of preventing this disease . However , the affected person can consult the doctor regarding how the disease might transfer from him to his/ her child and what all can be done . The doctors can have various tests done to the embryo and discover the disease ( in showcase any ) through genetic examination and counselling . Counseling can be admit from genetic counsellor who can guide the parent regarding the risk of AEC Syndrome in their child and all possible complications involved[2 ] . One can also decide whether to continue or not , the gestation as the Syndrome in a child is detected before parturition while attempt test .
Diagnosis of AEC Syndrome
AEC Syndrome can be diagnose on the basis of identification of certain specific symptoms and complete cognition about the patient ’s history . Various tests such as cutis biopsy , atrophy , epidermis , etc are available to diagnose AEC Syndrome in them . This can be done through various diagnostic services available at specialized diagnostic centers under careful observation of the various parts of the torso which can be sham by it . maternal DNA testing can also be done in parliamentary law to know about the chance of syndrome spend on from them .
Treatment of AEC Syndrome
The treatment of a person affected by AEC Syndrome is a corporate and combined force of a number of doctors such as pediatrist , dermatologists , audiologists , orthopedics , dentists , surgeons , ophthalmologist , and so onward . look upon the areas affected of the affected role . Dental operating room is recommended in fount of syndrome related to tooth . The dentist can implant a miss tooth or may shape a misshapen one . In the casing of skin erosion , aggressive treatment may lead to an increment in the combat injury and hence , they should be forfend . Using dilute antiseptic solutions can facilitate in the treatment . Proper care is also direct regarding the exercising weight and calorie intake before the discussion is done on children . All these standard therapies are honest in case of such disease .
Complications of AEC Syndrome
The AEC Syndrome can chair to a lack of teeth and various teeth problems which may admit cavities . The teeth are poorly developed . One faces lack of hair and various other scalp infections . middle problems include conjunctivitis , a coalition of eyelids , and so off head to muzzy vision and effect on the eyesight .
Life Expectancy of AEC Syndrome
AEC Syndrome affected patients lead a normal life and they have a normal life span like others . There are no side effects of AEC Syndrome and hence , one can lead a normal living , but it has various introductory symptom such as cough , fragile skin , hunched nails , and so off . AEC Syndrome does not affect the life couple of the person and the person . It can not be prevented , but can be cure with proper treatment .
Conclusion
AEC Syndrome is a disease which is make due to the want of certain protein in the body called the TP63 . The want of this protein in the body result in a lack of formation of certain body share lead to unusual growth . AEC Syndrome is normally caused due to the hereditary transmittal of disease from affect parents or the mortal can be affect on its own . AEC Syndrome can not be completely avoided as there are dissimilar areas affected by it and its mixture leave to a lack of noesis about the consummate cure of this disease . It is a grouping of about 150 conditions in all that can pass off to an individual . AEC Syndrome can affect both children as well as grown - up adults .
One can even get dominant disorders which may prove out to be harmful to the body . The parent can determine whether the child is facing AEC Syndrome in the embryo itself and decide whether they wish to proceed their pregnancy or not . AEC can not be avoided but right care can help to increase life . The mutations in the TP63 cistron have high pleiotropic effects which can be harmful .
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