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Familial case of deformed limbs
Sunil Taneja1, Purvi Mittal2, Rakhi Jain1, Gulnaz Nadri1, Ruchi Puri1, Shailendra Singh1.
1Department of Pediatrics, Madhuraj hospital Pvt Ltd, Kanpur,
2Department of Pediatrics, Ganesh Shankar Vidyarthi Memorial Medical college, Kanpur, UP, India.
ADDRESS FOR CORRESPONDENCE
Purvi Mittal, Flat No. 7 Panch Ratan App. 7/128 Swaroop Nagar Kanpur, 208002, India.
Email: purvimittal@gmail.com
FIG.1 Image showing feet (a) 7 yr (b) 3 yr old female siblings with median claft of both feet.
FIG. 2 Image showing hands (a) 7 yr girl with syndactyly of middle finger and ring finger of left hand, and median cleft of the right hand. (b) 3 yr girl with hypoplastic little finger, middle finger and index finger of left hand, median cleft, hypoplasia and syndactyly in right hand.
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FIG.1 Image showing feet (a) 7 yr (b) 3 yr old female siblings with median claft of both feet.
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What is the diagnosis?
Split-hand split-foot malformation {SHFM} or ectrodactyly, also known as “lobster claw hand,” is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet and aplasia or hypoplasia of the phalanges, metacarpals and metatarsals. There is median cleft in the hand and feet due to the absence of the central digital rays, which gives the appearance of a lobster. {1} This is a rare genetic disorder with an incidence of 1:90,000. {2} In ectrodactyly, the hand or foot or both appear split into two halves with failure of development of the phalanx, metacarpal and or metatarsal bones of one or more fingers and or toes. The spectrum of expression can be in form of just cutaneous syndactyly of digits to absence of the entire autopod. {3-5} and several instances of non-penetrance have been documented. {4} A large number of human gene defects can cause SHFM. In 2011, a novel mutation in DLX5 was found to be involved in SHFM. {6} A mutation in 7q21-q22 and chromosome 3q27 {p63 gene} is found in families affected by SHFM syndrome and in families affected by EEC syndrome {ectrodactyly–ectodermal dysplasia–cleft syndrome}. {7} In majority of cases SHFM undergoes autosomal dominant mode of inheritance with reduced penetrance but other types of inheritance have also been reported. {1} Common anomalies associated with ectrodactyly include tibial aplasia, craniofacial defects, and genitourinary abnormalities. {3} Ectrodactyly-ectodermal dysplasia-clefting syndrome {EEC} is the prototypical example of ectrodactyly syndrome accompanied by multiple organ defects. It is defined by a triad of ectrodactyly, ectodermal dysplasia and cleft lip and palate. {3} Since this malformation has an identified gene TP63 ideally efforts should be made to screen all the family members for this gene mutation. Ectrodactyly is a complex malformation and molecular diagnosis is important for complete evaluation of each case. It also requires a complete genetic evaluation along with a multi disciplinary team to manage the various associated anomalies. |
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| Compliance with ethical standards |
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Funding: None
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Conflict of Interest: None
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DOI: https://doi.org/10.7199/ped.oncall.2015.2 |
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Cite this article as:
Taneja S, Mittal P, Jain R, Nadri G, Puri R, Singh S. Familial case of deformed limbs (Familial case of split hand foot malformation). Pediatr Oncall J. 2015;12: 26. doi: 10.7199/ped.oncall.2015.2
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