Individuals Affected by EEC Syndrome

Synonyms

EEC syndrome

There are three different forms of EEC: EEC type 1, 2 and 3.  Only one family has been identified with EEC 1 and 2.  The most common type is EEC 3 In this document, we will refer to the latter as EEC.

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) is a Rare Genetic Condition Characterized by


  • Congenital absence of some fingers and/or toes (ectrodactyly)
  • Cleft lip and/or palate
  • Flat nasal tip

Teeth

  • Missing teeth (hypodontia)
  • Pointed teeth
  • Small teeth

Skin

  • Lightly pigmented skin
  • Fair skin
  • Thickening of outer-most layer of the epidermis (hyperkeratosis)

Hair

  • Lightly-pigmented, sparse, thick or thin, unruly hair
  • Sparse pubic hair
  • Sparse axillary hair (underarm)
  • Sparse eyebrows
  • Sparse eyelashes

Nails

  • Pitted nails (ice pick-like depressions in the nails)
  • Abnormally formed (dystrophic)

Eyes

  • Abnormal development of tear glands, tear ducts, and meibomian glands. This may lead to excessive tearing and/or extremely dry eyes.  This may cause inflammation of the eyelids, cornea, and conjunctiva
  • Abnormal function of stem cells for the cornea. This may lead to corneal erosions and conjunctival overgrowth of the cornea.
  • Intolerance to light (photophobia)

Ears

  • Conductive hearing loss
  • Small ears
  • Malformed auricles (outer visible part of the ear)

Other

  • Micropenis
  • Diminished sweating (hypohidrosis)

Some renal issues have also been reported

  • Distension and dilation of the renal pelvis
  • Internal structures of one or both kidneys do not develop normally
  • Missing one or both kidneys
  • Ureter and bladder problems

Intelligence

  • Reported as normal but there are some cases with reported intellectual disability

Life Span

  • Reported as average but no data to date

 

What Causes EEC?

Most cases of EEC syndrome are caused by mutations of the TP63 gene.

Diagnosing EEC Syndrome

A diagnosis of EEC syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

EEC can be diagnosed with a blood test to do a genetic test.  EEC can also be diagnosed clinically based on the symptoms but this is not 100% accurate.

Is There a Test for EEC?

Molecular testing is available for EEC syndrome.

How Is EEC Inherited?

EEC is inherited as an autosomal dominant disorder meaning a person affected has a 50% chance of passing the gene to a son or daughter.

Affected Population

EEC syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder in the general population is unknown. 

Learn more information about EEC syndrome at Online Mendelian Inheritance in Man.

Read about EEC syndrome research