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the term eec syndrome was coined by rudiger et al . , and consists of ectrodactyly ( e ) and ectodermal dysplasia ( e ) , and cleft lip / palate ( c ) .
other features include peg - shaped teeth with enamel hypoplasia , conductive deafness , lacrimal duct , and urogenital and neurological anomalies .
the syndrome results from a developmental abnormality that simultaneously affects the ectodermal and mesodermal tissues .
reports of the classical triad of anomalies in families , especially in indian literature , are few .
the inheritance of this condition is autosomal dominant , but there is genetic heterogeneity , variable expressivity , and reduced penetrance accounting for the clinical variability even in the same families , thus making genetic counseling difficult .
a one - day - old neonate was referred to our centre for multiple congenital anomalies and prematurity .
he was the third among the offsprings , born to nonconsanguineous parents . at the time of conception ,
it was a 35 week preterm neonate born by normal vaginal hospital delivery with no significant antenatal history . at birth , the baby had immediate cry . on examination , he weighed 1.6 kg , with a length of 41 cm and head circumference was 30.5 cm .
the skin was dry and scaly , more so on the upper trunk , face , hands , and feet .
ophthalmological evaluation revealed loss of cilia , with a wrinkled appearance of upper and lower lids on both sides and normal lacrimal puncta .
the visual acuity , cornea , fundus , and inner and outer canthal distances were normal .
x - rays of the hands and feet showed radiological findings corresponding to the clinical features .
x - ray spine ruled out spina bifida . there was no urogenital anomaly on ultrasonography .
similar skeletal abnormalities were present in the mother and the elder sibling ( 5-year - old female ) , though they did not have cleft palate [ figure 1 ] the second sibling died at the age of 4 days and according to the mother , he also had similar hand deformities , but no orofacial deformity [ figure 2 ] .
the eec syndrome is a rare autosomal dominant disorder with variable expressivity and reduced penetrance .
the central reduction defect of the hands and feet known as ectrodactyly , split hand / split foot malformation , or lobster - claw , occurs in approximately 1 in 18 000 newborns .
p63 is a transcription factor that regulates the activity of the tumor suppressor gene tp53 .
based on linkage studies and the analysis of chromosomal abnormalities , three loci have been identified in humans . it is a type of ectodermal dysplasia with variable involvement of skin , hair , teeth , and nails [ figure 3 ] .
ectodermal dysplasia may manifest as diffuse dryness and hypopigmentation of skin , hypopigmented and scanty hair , dysplastic nails , and abnormal dentition .
ophthalmologic manifestations include entropion , telecanthus , absence of lacrimal puncta , absence of lashes , blepharitis , corneal opacification , and neovascularization .
other ectodermal anomalies include mild hypohidrosis ; coarse , dry hair with hypotrichosis ; xerostomia ; dystrophic nails ; dental enamel hypoplasia ; and microdontia .
associated defects include conductive deafness , choanal atresia , and abnormalities of the genitourinary tract such as megaureter , duplicating collecting system , diverticuli , ureterocele , etc .
showing dry scaly skin , sparse hair and eyebrows , cleft palate and limb deformities .
ectrodactyly refers to variable deformities of hand and feet , having a common central split or cleft , but its occurrence is not obligatory . in a meta - analysis of 230 published cases ( 116 familial and 114 sporadic ) ,
ectrodactyly was found in 84% , ectodermal dysplasia in 77% , clefts in 68% , and anomalies of lacrimal ducts in 59% .
isolated cases were more severely affected than familial cases . our case presented with all the three cardinal features but no eye or genitourinary abnormalities . it is probable that some of the manifestations may take some time to develop , hence are not seen in this neonate . also , variability in the phenotype within the same family is seen .
anneren et al . , suggested that low birth weight and polysyndactyly ( without ectrodactyly ) may be features of the eec syndrome .
jindal g. reported a 6 and half - year - old boy with similar hand foot deformity whose sibling , a term female stillbirth also had a similar anomaly , but neither had other associated defects .
fryns et al . , reported variable manifestations of eec in 2 families , confirming that no symptom is obligatory for the diagnosis . in the absence of cleft lip / palate ,
eec patients have a characteristic facial morphology with maxillary hypoplasia , short philtrum , and broad nasal tip .
interfamilial variability was significantly greater than intrafamilial variability , pointing to genetic ( allelic ? )
the variable expressivity accounts for phenotypic variability in the affected members of the same family .
management of the cases requires multidisciplinary approach and reassurance regarding the low risk of mental handicap .
ectrodactyly , ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration . 
 the cardinal features are cleft palate / lip , lobster hand deformity , sparse hypopigmented hair , dry scaly skin , and lacrimal and urogenital anomalies . 
 a neonate presented to us with typical features , his mother and other two siblings were also affected .