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?
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. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Obesity in Children, Autism Spectrum Disorder, Ectodermal Dysplasias, and Zlotogora-Ogur Syndrome. Dr. Ajayi is board certified in American Board Of Pediatrics.

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. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Strabismus, Esotropia, Amblyopia, and Epicanthal Folds. Dr. Barbe is board certified in American Board Of Ophthalmology.

 
 
 
 
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Advanced in EEC Syndrome
Pediatrics | Dermatology
Advanced in EEC Syndrome
Pediatrics | Dermatology
7500 Challis Rd, 
Brighton, MI 
Languages Spoken:
English

Dr. Jennifer Mancuso a board-certified dermatologist, and fellowship-trained pediatric dermatologist who provides medical dermatology diagnosis and treatment to patients of all ages. Dr. Mancuso sees patients in our medical dermatology outpatient clinics, including our pediatric dermatology clinic at C.S. Mott Children’s Hospital. In addition, Dr. Mancuso provides dermatology consultation within the Michigan Medicine hospitals and emergency department.Dr. Mancuso is a clinical assistant professor in the departments of dermatology and pediatrics. She received her medical degree from Wayne State University School of Medicine in Detroit, Michigan. Following graduation, Dr. Mancuso completed her transitional year internship and her dermatology residency at Henry Ford Hospital, where she served as Chief Resident in her final year. Dr. Mancuso joined the University of Michigan Department of Dermatology faculty in 2018 and subsequently completed a fellowship in pediatric dermatology at Rady Children’s Hospital in San Diego, California in 2020. Dr. Mancuso is rated as an Advanced provider by MediFind in the treatment of EEC Syndrome. She is also highly rated in 75 other conditions, according to our data. Her clinical expertise encompasses DRESS Syndrome, Hidradenitis Suppurativa, Keratosis Pilaris, and Vascular Birthmark.

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