EEC Syndrome
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Learn About EEC Syndrome

What is the definition of EEC Syndrome?
EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by genetic changes in the TP63 gene. The of individuals with EEC syndrome are thought to have a genetic change in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner.
What are the alternative names for EEC Syndrome?
  • EEC syndrome
  • Ectrodactyly-cleft lip/palate syndrome
  • Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
  • Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
  • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
  • Rudiger syndrome 1
  • Walker-Clodius syndrome
Who are the top EEC Syndrome Local Doctors?
Abimbola T. Ajayi
Experienced in EEC Syndrome
Experienced in EEC Syndrome

Penn State Health Medical Group - All About Children

655 Walnut St, 
West Reading, PA 
Languages Spoken:
English

. Dr. Ajayi is rated as an Experienced provider by MediFind in the treatment of EEC Syndrome. Her top areas of expertise are Obesity in Children, Autism Spectrum Disorder, EEC Syndrome, and Ectodermal Dysplasias.

Maria E. Barbe
Experienced in EEC Syndrome
Ophthalmology
Experienced in EEC Syndrome
Ophthalmology

Sight MD PA

1300 Broadcasting Road, 
Wyomissing, PA 
Languages Spoken:
English

. Dr. Barbe is rated as an Experienced provider by MediFind in the treatment of EEC Syndrome. Her top areas of expertise are Strabismus, Esotropia, Amblyopia, and Epicanthal Folds.

 
 
 
 
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Adam H. Kaufman
Advanced in EEC Syndrome
Ophthalmology
Advanced in EEC Syndrome
Ophthalmology

Cincinnati Eye Institute

1945 Cei Drive, 
Blue Ash, OH 
Experience:
39+ years
Languages Spoken:
English
Accepting New Patients

Adam Kaufman is an Ophthalmologist in Blue Ash, Ohio. Dr. Kaufman has been practicing medicine for over 39 years and is rated as an Advanced provider by MediFind in the treatment of EEC Syndrome. His top areas of expertise are Uveitis, Neuroretinitis, Interstitial Keratitis, Scleritis, and Corneal Transplant. Dr. Kaufman is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center