Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC)
Referenced from U.S. National Library of Medicine (1) and Healthline (2)
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.
Individuals diagnosed with EEC experience abnormalities or deformities of the hands and/or feet. Ectrodactyly can affect digits of the hands or feet in any arrangement, such as syndactyly (webbed fingers or toes).
Cleft lip, cleft palate or both are very common; either of which can cause great difficulty in feeding for infants, thus slowing growth and development. Dental abnormalities including absence of teeth, absent or blocked tear ducts, light sensitivity (photophobia) and kidney abnormalities are common — individuals affected by EEC generally experience some but not all of these abnormalities.
EEC also boasts many common ectodermal dysplasia symptoms, such as:
- changes in skin pigmentation;
- sparse, brittle or missing hair;
- absent or malformed finger- and toenails;
- malformed or missing teeth;
- sensitivity to heat; and/or
- reduced ability to sweat.
EEC is considered part of the same disease spectrum as Rapp-Hodgkin syndrome (RHS), Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome and limb-mammary syndrome (LMS). EEC is very closely related to ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC), also known as Hay-Wells syndrome (HWS); however, individuals affected by EEC, unlike those with AEC, do not experience ankyloblepharon filiforme adnatum, in which strands of tissue partially or fully fuse the upper and lower eyelids.
Inherited in an autosomal dominant pattern, this group of diseases is caused by mutations in the TP63 gene, which interferes with the ability of the p63 protein to turn on and off many genes during early development. The p63 protein is critical in the development of ectodermal structures such as skin, hair, teeth and nails, as well as in the development of limbs, facial features, tissues and the urinary system.
(1)Genetics Home Reference, Genetic Conditions: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [Internet]. U.S. National Library of Medicine; [reviewed June 2011; published August 8, 2011]. [about 3 screens]. Available from: http://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome
(2) Kathleen A. Fergus MS, CGCThomson, Disease and Conditions: Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome [Internet]. Healthline NetworksInc.; [published 2005]. [6 pages] Available from: http://www.healthline.com/galecontent/ectrodactyly-ectodermal-dysplasia-clefting-syndrome.