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What is AEC Syndrome & How is it Treated?|Causes, Symptoms, Diagnosis of AEC Syndrome

What is AEC Syndrome?

AEC Syndrome is the acronym for Ankyloblepharon- Ectodermal defects-cleft lip/ palate (AEC) syndrome. It is additionally termed as the Hay-Wells Syndrome or Ankyloblepharon- ectodermal dysplasia- cleft lip syndrome or Rapp- Hodgkin syndrome. It is characterized by the abnormal development of human body tissues called 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 caused by the TP63 i.e. Tumor Protein 63 gene’s deficiency.

Categories of AEC Syndrome

AEC Syndrome can affect the human body under the following categories:

  • Congenital and Genetic Diseases
  • Throat Diseases
  • Ear Diseases
  • Skin Diseases
  • Musculoskeletal Eye Diseases
  • Mouth Diseases
  • Nose Diseases.

Frequency of AEC Syndrome

According to research in the United States, 1 out of every 100,000 newborns in the US faces ACE Syndrome. This is a rare case in the United States.

Causes of AEC Syndrome

AEC Syndrome is mainly caused by the absence or lack of formation of a particular type of gene known as Tumor Protein 63 (TP63) gene. These genes hold a very important role in the formation and development of ectodermal structures and also in the functioning of various body parts. The TP63 gene contains proper encoding known as synthesizing of p63 protein which is responsible for proper growth and development of various body parts such as the nose, eye, skin, and so on. Absence or lack of these proteins may result in the person facing AEC Syndrome of that particular body part who’s deficiency is been faced by the body. According to research, 70% if AEC Syndrome happens to people with no family history, while the remaining 30% transmit AEC Syndrome from the dominant genetic disorders of their parents [1].

Affected Areas and Specific Targets in AEC Syndrome

AEC Syndrome mainly targets nails, scalp, skin, eyes, nose, ears, teeth, lips and other body parts. They have easy recognition and one can clearly diagnose the disease through observation. Various treatments are available to treat the disease depending upon the area affected. AEC Syndrome cannot be prevented because it is hereditary but one can get specific checkups and genetic treatments done to know whether the child is about to face the same problems and can decide whether they want the pregnancy or not. In detail:

  • Teeth. The teeth may either be broken or missing. They can be misshaped as well.
  • Skin. Skin of AEC Syndrome affected patients are fragile and may lead to sausage skin or turn yellow and tight.
  • Scalp. The scalp of the affected person faces continuous erosions of hairs.
  • Sweat Glands. The ability to sweat is reduced due to this syndrome.
  • Hair. There is a high chance of the affected person having no eyebrows and eyelashes. The hair is usually sparse and fine and leaves patches on the scalp with no hair.
  • Eyes. The eyelid may fuse in with the upper portion. Absence of lacrimal and meibomian glands is also faced.
  • Nails. The nails are fragile, crooked, small and even missing.
  • Ears. Auricles are usually cup-shaped and the pinna is small and superior.
  • Other Effects on the Body. Extra nipples, missing eyebrows, fused fingers, cleft lip, missing eyelashes and hair on hands, and so forth.

Signs and Symptoms of AEC Syndrome

Since the disease is not very common, there is a huge amount of fluctuation in the symptoms of the disease. Majority of the symptoms of the AEC Syndrome are visible during the childhood of the affected person mostly after birth. There may be abnormal strands of tissues connecting different areas to each other or skin erosion. For instance, the upper eyelids may be connected with the lower eyelid due to the syndrome and this may result in their merger. Other normal symptoms include cough, low blood pressure, weakness, dizziness, headache, abnormal taste, and drowsiness, and so forth. Other symptoms include poor nail formation, poor toenail formation, conductive deafness, Absence of teeth, underdeveloped joy, oval-shaped face, cleft lip, ear deformities, skin erosion on scalp, broad bridge of the nose, and so forth.

Prevention of AEC Syndrome

Since the disease is genetically inherited by the child from the parent, there is no such known way of preventing this disease. However, the affected person can consult the doctors 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 case any) through genetic testing and counseling. Counseling can be taken from genetic counselors who can guide the parents 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 pregnancy as the Syndrome in a child is detected before birth while undertaking tests.

Diagnosis of AEC Syndrome

AEC Syndrome can be diagnosed on the basis of identification of certain specific symptoms and complete knowledge about the patient’s history. Various tests such as skin 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 body which can be affected by it. Parental DNA testing can also be done in order to know about the chances of syndrome passing on from them.

Treatment of AEC Syndrome

The treatment of a person affected by AEC Syndrome is a collective and combined effect of a number of doctors such as pediatricians, dermatologists, audiologists, orthopedics, dentists, surgeons, ophthalmologists, and so forth. Depending upon the areas affected of the patient. Dental surgery is recommended in case of syndrome related to teeth. The dentist can implant a missing tooth or may shape a misshapen one. In the case of skin erosions, aggressive treatments may lead to an increase in the wound and hence, they should be avoided. Using dilute antiseptic solutions can help in the treatment. Proper care is also taken regarding the weight and calorie intake before the treatment is done on children. All these standard therapies are reliable in case of such diseases.

Complications of AEC Syndrome

The AEC Syndrome can lead to a lack of teeth and various teeth problems which may include cavities. The teeth are poorly developed. One faces lack of hair and various other scalp infections. Eye problems include conjunctivitis, a fusion of eyelids, and so forth leading to blurry 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 life, but it has various basic symptoms such as cough, fragile skin, crooked nails, and so forth. AEC Syndrome does not affect the life span of the individual and the person. It cannot be prevented, but can be cured with proper treatments.


AEC Syndrome is a disease which is caused due to the lack of certain protein in the body called the TP63. The lack of this protein in the body results in a lack of formation of certain body parts leading to unusual growth. AEC Syndrome is usually caused due to the genetic transmission of disease from affected parents or the person can be affected on its own. AEC Syndrome cannot be completely avoided as there are different areas affected by it and its variety leads to a lack of knowledge about the complete cure of this disease. It is a group of nearly 150 conditions altogether that can happen to an individual. AEC Syndrome can affect both children as well as grown-up adults.

One can even receive dominant disorders which may prove out to be harmful to the body. The parents can determine whether the child is facing AEC Syndrome in the embryo itself and decide whether they wish to continue their pregnancy or not. AEC cannot be avoided but proper care can help to increase life. The mutations in the TP63 genes have high pleiotropic effects which can be harmful.


  1. Julapalli, M., Scher, R., Sybert, V., Siegfried, E., & Bree, A. Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. American Journal Of Medical Genetics Part A, (2009). 1900-1906.
  2. Nagaveni, N., & Umashankara, K. Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder. Indian Journal of Human Genetics, (2011). 245.
Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:May 28, 2019

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