|Year : 2016 | Volume
| Issue : 1 | Page : 72-74
Autosomal recessive split-hand/split-foot malformation
Monojit Mondal, Biswajit Biswas, Kaustav Nayek, Asok Kumar Datta
Department of Pediatric Medicine, Burdwan Medical College, Burdwan, West Bengal, India
|Date of Web Publication||4-Mar-2016|
Vill-Baruipara, P.O.-Kalna, Dist.-Burdwan - 713 409, West Bengal
Source of Support: None, Conflict of Interest: None
Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot. It is also known as ectrodactyly or lobster claw hand. Although SHFM is mostly autosomal dominant, there are isolated case reports which indicate that it can be autosomal recessive. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance.
Keywords: Autosomal recessive, ectrodactyly, split-hand/split-foot malformation
|How to cite this article:|
Mondal M, Biswas B, Nayek K, Datta AK. Autosomal recessive split-hand/split-foot malformation. J Mahatma Gandhi Inst Med Sci 2016;21:72-4
|How to cite this URL:|
Mondal M, Biswas B, Nayek K, Datta AK. Autosomal recessive split-hand/split-foot malformation. J Mahatma Gandhi Inst Med Sci [serial online] 2016 [cited 2020 Jul 14];21:72-4. Available from: http://www.jmgims.co.in/text.asp?2016/21/1/72/178126
| Introduction|| |
Split-hand/split-foot malformation (SHFM) may present with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Classical lobster claw appearance is seen when there is absence of the third digit with clefting into the proximal portion of the hand or foot and syndactyly of remaining digit on each side of the cleft.  Several number of human gene defects and environmental factors may cause SHFMs. While the most common mode of inheritance is autosomal dominant with reduced penetrance, autosomal recessive and X-linked forms have also been rarely reported. Chromosomal deletions and duplications have been noticed in few published literature. , Surgical correction remains the main treatment modality of SHFMs.
| Case Report|| |
A 1-day-old male infant belonging to poor socioeconomic strata from a remote area of West Bengal (India) was admitted to our neonatal intensive care unit with deformed hands. The baby was born by normal vaginal delivery at a rural health center. Parents were nonconsanguineous. Antenatal and intranatal events were unremarkable.
On examination, baby weighed 2.3 kg. Reflex and activities were good. Pulse rate was 140/min, respiration rate was 36/min, and temperature recorded on admission was 99.6°F. Anthropometric measurements were within normal limit.
There was absence of third digit in the right hand with cleft between second and forth digit leading to lobster claw appearance of right hand [Figure 1] and left hand showed only two digits [Figure 2]. Feet were however normal. There was no other dysmorphic feature.
|Figure 1: Photograph showing absence of the third digit in the right hand with cleft between second and forth digit|
Click here to view
The baby was apparently fine during the hospital stay. Routine blood and urine tests were normal. A radiologic skeletal survey done to rule out associated long bone anomalies were noncontributory. Abdominal and cranial ultrasound and echocardiography findings were also reported normal. Karyotype revealed 46, XY male genotype. Further genetic studies however could not be carried out due to economic constraints on the part of the family. Visual and hearing assessments were planned during follow-up.
Our patient was forth in birth order. The first two siblings were normal male baby with no deformity. Third sibling was a female, who also did not have any malformation. There was no history of similar malformation in the family.
| Discussion|| |
The SHFM is a central reduction defect of the hands or feet which may exist as an isolated trait or part of multiple congenital anomaly syndrome including acro-dermato-ungual-lacrimal-tooth syndrome, ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, limb-mammary syndrome, ectrodactyly-cleft palate syndrome, ectrodactyly-fibular aplasia/hypoplasia syndrome.  Its incidence has been reported to be around 1 in 90,000 babies with no sex predilection. Phenotypic expression of the disease varies greatly. Milder forms may present with hypoplasia of a single phalanx or syndactyly but severe forms present with aplasia of one or more central digits (i.e., classical cleft also known as lobster-claw anomaly). ,
Both genetic and environmental factors have been implicated in the etiology of the disease process. These factors may lead to SHFMs by interfering with apical ectodermal ridge (a major signaling center for proper limb development) function or maintenance in the developing limb bud, resulting in the absence of central rays. 
Usual mode of inheritance is autosomal dominant pattern with reduced penetrance though there are rare case reports with possible autosomal recessive and X-linked forms of inheritance. ,, At least seven SHFM types (six basic from SHFM1 to SHFM6 and one additional SHFM/ SHFLD-split hand/foot malformation with long bone deficiency) have been distinguished. The most common variety, SHFM Type1 results due to mutation on chromosome 7 (rearrangements in 7q21.3-q22.1) in a region that contains two homeobox genes, DLX5 and DLX6. SHFM2 is linked to the X chromosome; SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the tumor protein p63 gene cause SHFM4. SHFM5 is linked to chromosome 2; SHFM6 is caused by mutations in the WNT10B gene. 
In the present case, the inheritance pattern was autosomal recessive as only one sibling was affected, and no other family members had the disease. There have been isolated case reports in the literature with an autosomal recessive variety of inheritance pattern. These cases were mostly isolated defects. Zlotogora and Nubani  described a family in which two out of four siblings had typical SHFM. Verma et al.  described two different instances of SHFM with possible autosomal recessive pattern of inheritance.
The treatment aims at improving the appearance and proper functioning of a limb. Appropriate surgical intervention by experts remains the mainstay. Use of prosthesis and orthesis are considered in appropriate cases. 
Since the disease can be inherited, parents should be appropriately counseled regarding the chance of recurrence in future siblings. Antenatal diagnosis by means of a vigilant abdominal ultrasound at 15 weeks should be offered to the affected family. 
| Conclusion|| |
As SHFMs may sometimes co-exist with other malformations, we emphasize on an early antenatal diagnosis by careful abdominal ultrasound so that syndromic associations may be diagnosed early and appropriate treatment measures can be initiated on time, thus avoiding undue morbidity and mortality.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Elliott AM, Reed MH, Roscioli T, Evans JA. Discrepancies in upper and lower limb patterning in split hand foot malformation. Clin Genet 2005;68:408-23.
Gül D, Oktenli C. Evidence for autosomal recessive inheritance of split hand/split foot malformation: A report of nine cases. Clin Dysmorphol 2002;11:183-6.
Mondal M, Rana KS, Banerji N, Bose S, Biswas T, Biswas B, et al. Split-hand/split-foot malformation (SHFM). Asian J Med Sci 2014;6:122-3.
Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003;12 Spec No 1:R51-60.
Sowin¯ ska-Seidler A, Socha M, Jamsheer A. Split-hand/foot malformation-molecular cause and implications in genetic counseling. J Appl Genet 2014;55:105-15.
Zlotogora J, Nubani N. Is there an autosomal recessive form of the split hand and split foot malformation? J Med Genet 1989;26:138-40.
Verma IC, Joseph R, Bhargava S, Mehta S. Split-hand and split-foot deformity inherited as an autosomal recessive trait. Clin Genet 1976;9:8-14.
Upton J, Taghinia AH. Correction of the typical cleft hand. J Hand Surg Am 2010;35:480-5.
Arbués J, Galindo A, Puente JM, Vega MG, Hernández M, de la Fuente P. Typical isolated ectrodactyly of hands and feet: Early antenatal diagnosis. J Matern Fetal Neonatal Med 2005;17:299-301.
[Figure 1], [Figure 2]