Report an error   

HERDIN Record #: CAR-BGHMC-12100910454619 Submitted: 09 October 2012 Modified: 26 November 2012

Ecrodactyly ectodermal dysplasia – clefting syndrome : a case report .

See More


Ectodermal dysplasias are rare congenital disorders, affecting primarily organs of ectodermal origin. Its most recognized form, ectrodactyly - ectodermal dysplasia - cleft syndrome (EEC) is brought into focus in this report

Case report:

This is an 8 month old male born with multiple congenital anomalies consisting of cleft lip, cleft palate, and limb abnormalies. Other features noted were sparse scalp hair and eye browse, eye lashes, frontal alopecia, excessive lacrimation, dermatitis and bilateral hydronephrosis. Eventually he underwent facial clefts repair although still with recurrent respiratory infection and excessive lacrimation.


EEC syndrome is an autosomal dominant genetic disorder with incomplete penetrance and variable expression. It involves the mutation of TP63 gene, regulating cell growth . its major features are ectodermal dysplasia, ectrodactyly, cleft lip and palate. Minor features include nasolacrimal duct obstruction, recurrent urinary tract infections, skin and hair hypo pigmentation. The triad of ectrodactyly or limb deformities, ectodermal dysplasias, and facial clefting, as seen in this case, support its diagnosis. Genetic testing reveals the mutation but not mandatory. Management is multidisciplinary. Sweating problem is the most dreaded complication; otherwise, patients have an excellent prognosis.


EEC syndrome is a rare congenital disorder affecting the skin, hair, nails, limbs and facial clefts. Affected individuals when properly managed may live normally despite their disabilities. Counseling is important to parents and other family members for proper homecare.

Publication Type
Research Report


To present a case of ectodermal dysplasia, its clinical presentation, pathophysiology, management , prognosis, and impact to one's life.

LocationLocation CodeAvailable FormatAvailability
Baguio General Hospital and Medical Center Fulltext Print Format
1. Rodini, S. O., Richieri, C. A.. "EEC Syndrome: report on 20 new patients , clinical and genetic considerations" Am J Med Genet 37, 42-53, 1990
2. Knudtzon, J. . "Growth hormone deficiency associated with the ectrodactyly - ectodermal dysplasia: clefting syndrome and isolated absent septum pellucidum" Pediatrics 79, 410-412, 1987
3. Report of WHO registry meeting on craniofacial anomalies
4. Gorlin, R. J., Cohen, M. M., Levin, L. S.. Syndromes of the head and neck New York: Oxford Univ Press, 1990.
5. Towards a new classification of ectodermal dysplasia. Clin Exp Dermatol 2003. 351-355.
6. Rudiger, R. A., Haase, W. , Passarge, E. . "Association of ectrodactyly, ectodermal dysplasia and cleft lip-palate" Am J Dis Child 120(160): 1970
7. Anderson, T. G., Andersson, T. , Lindgren, P. G.. "Ectrodactyly- ectodermal dysplasia - clefting syndrome (eec): the clinical variation and prenatal diagnosis " Clin Genet 40, 257-262, 1991