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Year : 2007  |  Volume : 55  |  Issue : 2  |  Page : 162-163

EEC syndrome

Department of Ophthalmology, JN Medical College and KLES Hospital and MRC, Belgaum, India

Correspondence Address:
Harish N Kumar
Department of Ophthalmology, JN Medical College and KLES Hospital and MRC, Belgaum
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.30725

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How to cite this article:
Kumar HN, Kugar TS, Rao RJ, Kodkany S. EEC syndrome. Indian J Ophthalmol 2007;55:162-3

How to cite this URL:
Kumar HN, Kugar TS, Rao RJ, Kodkany S. EEC syndrome. Indian J Ophthalmol [serial online] 2007 [cited 2022 Dec 3];55:162-3. Available from: https://www.ijo.in/text.asp?2007/55/2/162/30725

Dear Editor,

We are reporting a case consisting of ectrodactyly, ectodermal dysplasia and clefting of lip and palate (EEC syndrome) with a very rare constellation of ocular features. The term EEC syndrome was coined by Rudiger et al .[1] in 1970. It is a complex pleiotropic multiple congenital anomaly/dysplasia syndrome in which any one of the stigmata or cardinal signs are present in variable expression.

A ten-year-old male child was referred to us from the cleft lip and palate clinic with bilateral cleft lip and palate. There was history of nonconsanguineous marriage with full term normal delivery conducted at home. There were no similar complaints in the family. The child has four siblings and none of them have abnormalities.

On examination the child had cleft lip and palate with midline clefting [Figure - 1], speech was hypernasal with mild conductive hearing loss.[2] Enamel hypoplasia with partial anodontia was also present.

Ophthalmological findings were confined to the adnexae and anterior segment. The features were hypertelorism [Figure - 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Figure - 3] and blepharitis. Child had photophobia, showing papillary conjunctivitis, conjunctival pigmentation and dryness. Nasolacrimal duct was blocked with chronic dacryocystitis. Tear formation and tear break up time was decreased. Rest of the anterior segment was normal with good visual acuity.

Skeletal anomalies were, ectrodactyly of both hands,[3] syndactyly in fourth, fifth fingers and toes (ectrosyndactyly). A typical lobster claw hand[4] deformity [Figure - 4] was also present. Skin was dry, scaly and hypopigmented. Body hair, eyebrows and lashes were sparse and poorly developed. Patient was of normal intelligence. X-ray of hands and teeth confirmed ectrodactyly and syndactyly.

Management of these cases is difficult from both the practical and psychological standpoint and is by multidisciplinary approach; the team comprises plastic and dental surgeons, ophthalmologist, dermatologist and a speech therapist. The child was advised artificial tears for dry eye and emollients for the dry skin. Cleft lip and palate was repaired by a plastic surgeon. Speech and audiology therapy was advised. Cleft hands and syndactyly repair was also suggested.

The EEC syndrome results from a developmental abnormality that simultaneously affects the ectodermal and mesodermal tissues; although each defect that comprises the syndrome has been known to occur as a separate entity, the constellation of all three anomalies appears to be a rare occurrence.[1],[2] The inheritance of this condition is autosomal dominant, although sporadic and autosomal recessive traits have been reported,[5] but it is not yet clear whether the incomplete forms reflect a reduced expression of the gene or one or more separate clinical entities. It is very likely that the EEC syndrome is another example of genetic heterogeneity and the determination of its genetic mechanism or mechanisms will require that clinical variability be carefully documented and defined.[4] Early diagnosis helps in counseling and reassurance.[5]

  Acknowledgment Top

Dr. Rajesh Powar M.S, Mch, Department of Plastic Surgery, K.L.E.S's Hospital and M.R.C, Belgaum.

  References Top

Rudiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia and cleft lip - palate. Am J Dis Child 1970;120:160-3.  Back to cited text no. 1
Robinson GC, Wildervanck LS, Chrong TP. Ectrodactyly, ectodermal dysplasia and cleft lip - palate syndrome: Its association with conducting hearing loss. J Pediatr 1973;82:107-9.  Back to cited text no. 2
Bixler D, Spivack J, Bennett J, Christian JC. The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome. Clin Genet 1972;3:43-51.  Back to cited text no. 3
Walker JC, Clodius L. The syndrome of cleft lip, cleft palate and lobster claw deformities of hand and feet. Plast Reconstr Surg 1963;32:627-36.   Back to cited text no. 4
Rodini ES, Richieri-Costa A. EEC Syndrome: Report on 20 new patients, clinical and genetic considerations. Am J Med Genet 1990;37:42-53.  Back to cited text no. 5


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]

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