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Case Report Plastic and Aesthetic Research

Ectrodactyly‑ectodermal dysplasia‑cleft

lip/palate syndrome: a rare entity

Samrat Sabhlok , Sobhan Mishra , Ramanupam Tripathy , Deepthi Mony 3
1
2
2
1 Department of Oral and Maxillofacial Surgery, Dr. D. Y. Patil Dental College and Hospital, Pune 411018, Maharashtra, India.
2 Department of Oral and Maxillofacial Surgery, Institute of Dental Sciences, Bhubaneshwar, Odisha 751003, India.
3 Consultant Oral and Maxillofacial Surgeon, Navi Mumbai 400706, Maharashtra, India.
Address for correspondence: Dr. Samrat Sabhlok, Department of Oral and Maxillofacial Surgery, Dr. D. Y. Patil Dental College and Hospital,
Pune 411018, Maharashtra, India. E‑mail: samratsabhlok@yahoo.com

ABSTRACT
Ectrodactyly‑ectodermic dysplasia‑cleft lip/palate (EEC) syndrome is a rare congenital anomaly of
inherited origin and varying clinical features. This syndrome has three main symptoms, which display
variable expression and penetrance. The management of this syndrome is challenging, with few reports
in the medical literature. We present a case of a 22‑year‑old boy with EEC syndrome and offer insight
into current knowledge about this syndrome.

Key words:
Cleft lip and palate, ectodermal dysplasia, ectrodactyly

INTRODUCTION (with atresia of the nasolacrimal duct) and cleft lip with
or without cleft palate, terming it EEC syndrome. [4]
Ectrodactyly‑ectodermic dysplasia‑cleft lip/palate (EEC) It is a rare syndrome, with the frequency of ectrodactyly
syndrome applies to a triad of inherited congenital at 1.5/100,000 live births and 1/100,000 live births for
anomalies including ectrodactyly (lobster claw deformities cleft palate with or without a cleft lip. The occurrence
[5]
of the hands/feet), ectodermic dysplasia (ED) (fine, of all three disorders in one, that is, ectrodactyly,
short hair, absent eyebrows and eyelashes, dystrophic ectodermal dysplasia, and cleft lip/palate, is reported to be
nails, diffuse scaling and palmoplantar keratoderma) approximately 1.5/100 million. [6]
and cleft lip with or without cleft palate. The
[1]
syndrome was first documented in a tribe from German EEC syndrome shows an autosomal dominant inheritance
Guyana in South America, in 1770 while Eckholdt and pattern with variable expressivity and incomplete
Martens described the syndrome for the 1st time in penetrance, although autosomal recessive inheritance has
1804. In 1936, Cockayne described a pedigree of also been reported. [7]
[2]
two generations with split hands and feet, cleft lip The responsible gene has been identified as the p63
and palate and dacryocystitis. Subsequently, Walker gene, which is essential for limb formation and epidermal
and Clodius described three pedigrees with complete morphogenesis including adnexa (teeth, hair, mammary
unilateral or bilateral clefts of the primary and and prostate glands.) The mutation of this gene accounts
[8]
secondary palate associated with lobster claw hands and for most, if not all, cases of the classic EEC syndrome. [6]
[3]
feet and malfunction of the lacrimal system. In 1970,
Rudiger and associates described the rare combination
of ectrodactyly (lobster claw deformity), ED This is an open access article distributed under the terms of the Creative Commons
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How to cite this article: Sabhlok S, Mishra S, Tripathy R, Mony D.
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a rare
DOI: entity. Plast Aesthet Res 2015;2:290-3.
10.4103/2347-9264.165446
Received: 01-04-2015; Accepted: 10-07-2015

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