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Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate (EEC)

What is ectrodactyly ectodermal dysplasia cleft lip/palate (EEC)?

Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) is a rare type of ectodermal dysplasia, a group of disorders typically characterized by abnormalities that occur early on in embryonic development. ECC is characterized by missing middle fingers and toes, as well as a cleft lip and palate. While the exact prevalence of this disorder is unknown, it does seem to affect males and females equally.

What are the symptoms of EEC?

Type and severity of symptoms can vary greatly. They include the following:
  • Missing or irregular fingers and toes
  • Cleft lip and palate
  • Distinctive facial features, such as: undeveloped upper jaw, broad nasal tip, long groove between nose and upper lip, and narrowing of nasal airways
  • Sparse, coarse, and slow-growing hair
  • Abnormal sweat glands, which can lead to reduced ability to sweat (hypohidrosis), heat intolerance, and fever
  • Missing, malformed teeth, as well as severe tooth decay
  • Slow-growing, thing, malformed nails
  • Dry, discolored, itchy skin
  • Abnormalities in eyes, such as lacrimal duct obstruction
  • Urinary tract issues, like hydronephrosis (accumulation of urine in the pelvis and kidney duct)
  • Genitourinary anomalies
  • Hearing loss

What causes EEC?

EEC is divided into two different types, which are defined by underlying cause. The vast majority of affected individuals have EEC syndrome type 3, which is caused by mutations in the TP63 gene. Those with EEC syndrome type 1 are thought to have a mutation in a region of chromosome 7. Genes are located in chromosomes, which carry the genetic characteristics of individuals, and are located in the nucleus of all body cells. Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. In some cases, EEC is inherited in an autosomal dominant pattern, which means that only one parent need pass down a copy of the gene for the condition to occur. In other cases, the mutation may occur spontaneously, meaning that it can occur in people with no family history of the disorder.

How is EEC diagnosed?

EEC is diagnosed using the following procedures:
  • Genetic testing for mutations in the TP63 gene and on chromosome 7
  • Prenatal testing if the mutation in the family is known
  • Detailed patient history
  • X-rays
  • Skin biopsy
  • Ophthalmological exam
  • Kidney ultrasound

What are the treatments for EEC?

EEC treatment can vary depending on each individual’s particular symptoms, and it usually takes a team of specialists working together to treat. Treatment includes, but is not limited to:
  • Reconstructive surgery
  • Emollients to treat dry skin
  • Dental surgery
  • Artificial tears or surgery for patients with lacrimal duct obstruction
  • Hearing aids for impaired hearing
  • Emphasis on dental health to prevent tooth decay
  • Close monitoring for signs of hyperthermia if the patient has hypohidrosis
  • For patients with hydronephrosis, temporary drainage of urine. Surgery may be needed in more extreme cases
  • Genetic counseling

Where can I find out more about EEC?

Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate (EEC) Articles