Ectrodactyly is an autosomal dominant ectodermal dys-plasia presenting as bilateral congenital malformed handsand feet [1]. It affects about 1 in 90,000 births with malesand females equally as likely to be affected. It is charac-terized by transverse terminal aphalangia or partial to totalabsence of the distal segments of fingers. It may involveone or more digits or the full hand and even part of theupper arm. More severe manifestations are hemimelia oramelia. All these abnormalities are considered to representvarious degrees of severity of the same anomaly and maybe due to an intrauterine vascular occlusion or insufficiency[2]. These different forms are connected with a differentgenetic mutation. Type I, the most frequent form has beenfound to be a mutation on chromosome 7 in a region thatcontains two homeobox genes, DLX5 and DLX6. Usuallythis is characterized as the split hand/foot deformity due tothe absence of the third digit, with clefting into the prox-imal portion of the hand or foot and syndactyly ofremaining digits on each side of the cleft. The handresembles a lobster claw [3]. The association of ectrodac-tyly with cleft lip and palate was originally described byCockayne [4]. It was known as Ectrodactyly-EctodermalDysplasia-Cleft lip/palate syndrome (EEC syndrome) [5].
A 28-year-old woman with features suggestive of ectro-dactyly was referred to our center for genetic counseling inthe Department of Fetomaternal Medicine at Centrefor Infertility Management and Assisted Reproduction(CIMAR), Edappal Hospitals, Edappal, Malappuram,Kerala. Both her hands were showing lengthening andbroadening of the digits. There was a medial cleft in themetacarpals, dividing the hand into two portions. Syndac-tyly of the remaining fingers was seen. The growth of thedigits was more as compared to other body parts. The nailsof the affected fingers were maldeveloped (Fig.1). Herlegs also showed ectrodactyly with medial cleft in themetatarsals and syndactyly of the toe fingers (Fig.2). Shecould perform all her routine activities and she was apostgraduate schoolteacher. Systemic examination of thepatient did not reveal any other anomaly. Abdominalultrasonography did not show any abnormality. X-ray ofboth hands and feet confirmed ectrodactyly. Hair and teethwere normal and there were no other congenital malfor-mations. There was no history of consanguinity or anyother relevant family history. She had previously under-gone two medical terminations of pregnancies as ultraso-nographical examination of the fetuses showed splitting ofhand and fused fingers suggesting ectrodactyly in the fetus.She was gravida 3 with gestational age corresponding to11 weeks when she visited our clinic. The fetus was con-tinuously monitored by Voluson 730 pro. The level threetargeted scan at 14 weeks showed that the fetus was having all the metacarpals and phalanges normal (Figs.3,4). Themetatarsals and toe phalanges also appeared normal.Ultrasonography was repeated at 19 weeks and the fetuswas found to be not affected. She continued her pregnancytill term by continuous ultrasound monitoring and gavebirth to a normal male child.
Ectrodactyly is a rare autosomal dominant ectodermaldysplasia. It sometimes may be associated with otherectodermal defects. The most common clinical manifesta-tions of EEC syndrome are ectodermal dysplasia, ectro-dactyly, cleft lip/palate and tear duct anomalies. Theexpression of this may be quite variable with reducedpenetrance also. In a review of 230 published cases byRoelfsema et al.[6], ectrodactyly was found in 84%,ectodermal dysplasia in 77%, clefting in 68% and anom-alies of lacrimal ducts in 59%. Urogenital defects werereported in 52%. Isolated cases were more severelyaffected than familial cases [6]. In the present case she onlyshowed lobster claw with no other abnormality. The patientwas offered genetic counseling and the mode of inheritanceexplained. Since ectrodactyly is an autosomal dominantdisorder, there are 50% chances of recurrence for the futurepregnancies. Genetic studies using mutation analysis wasexplained to the patient but the patient opted out, as it wasvery expensive and not available in India. In the presentcase the fetus was continuously monitored by ultrasonog-raphy and she delivered a term normal male child. Thus,for certain ectodermal dysplasias like ectrodactyly moni-toring by ultrasonography in high risk pregnancy will be more appropriate rather than expensive gene testing whichat times are not available to the patients.
