|Year : 2015 | Volume
| Issue : 2 | Page : 160-162
Split-hand/foot malformation type 1 with sensorineural hearing loss (SHFM1D): A case report
Chandra Madhur Sharma1, Deepti Sharma2, Manoj K Meghwani3, Ravi P Agrawal4
1 Department of Pediatrics, Subharti Medical College, Meerut, India
2 Department of Obstetrics and Gynecology, Subharti Medical College, Meerut, India
3 Department of Tuberculosis and Chest, Rama Medical College, Hospital and Research Centre, Kanpur, Uttar Pradesh, India
4 Department of Pediatrics, Rama Medical College, Hospital and Research Centre, Kanpur, Uttar Pradesh, India
|Date of Web Publication||16-Mar-2015|
Chandra Madhur Sharma
8/218, Flat No. H, Arya Nagar, Kanpur - 208 002, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic condition characterized by malformation of the limbs with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. It has a prevalence of 1:10,000-1:90,000 worldwide. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, genitourinary abnormalities, and deafness. SHFM is a rare congenital anomaly. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a rare case of SHFM with sensorineural hearing loss.
Keywords: Ectrodactyly, sensorineural hearing loss, split-hand/split-foot malformation
|How to cite this article:|
Sharma CM, Sharma D, Meghwani MK, Agrawal RP. Split-hand/foot malformation type 1 with sensorineural hearing loss (SHFM1D): A case report. CHRISMED J Health Res 2015;2:160-2
|How to cite this URL:|
Sharma CM, Sharma D, Meghwani MK, Agrawal RP. Split-hand/foot malformation type 1 with sensorineural hearing loss (SHFM1D): A case report. CHRISMED J Health Res [serial online] 2015 [cited 2022 May 23];2:160-2. Available from: https://www.cjhr.org/text.asp?2015/2/2/160/153265
| Introduction|| |
Split-hand/split-foot malformation (SHFM) or ectrodactyly is a rare congenital anomaly presenting with deficiency or absence of one or more central digits of hand and foot along with/without syndactxyly, median clefts of the hands and feet, and aplasia/or hypoplasia of the phalanges, metacarpals, and metatarsals. , The word ectrodactyly was coined from two Greek words-ektroma (abortion) and daktylos (finger).  Other terms which are used for ectrodactyly include SHFM, crab-claw deformity, and lobster claw.  Some authors use ectrodactyly for any absence or deformity of distal limbs and reserve SHFM for the typical malformation, while other use ectrodactyly synonymously with SHFM.  The basic embryologic abnormality in SHFM is failure to maintain a normal functioning apical ectodermal ridge, leading to failure of differentiation of the autopod (hand or foot).  In SHFM, the hand and/or foot 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 involvement may be in the form of just cutaneous syndactyly of digits to absence of the entire autopod and several instances of nonpenetrance have been documented. 
The most frequent inheritance pattern of SHFM is autosomal dominant with reduced penetrance. Autosomal recessive and X-linked forms are less frequent, while some cases of ectrodactyly are also caused by chromosomal deletion and duplication.  Common anomalies associated with ectrodactyly include tibial aplasia, craniofacial defects, and genitourinary abnormalities and deafness. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is the example of ectrodactyly syndrome and accompanied by multiple organ defects. It is defined by a triad of ectrodactyly, ectodermal dysplasia, and cleft lip and palate. , This is a rare genetic disorder with an incidence of 1:90,000. , Other syndromes associated with ectrodactyly include Carpenter's, de Lange, Goltz, and Miller syndrome. 
We report a sporadic case of SHFM involving right hand and left foot along with deafness.
| Case Report|| |
A 4-year-old male child was brought to the pediatric outpatient department (OPD) with complaints of deformity of right hand and left foot along with deafness since birth. On detailed history, patient was the only child born to a nonconsanguineous marriage with no perinatal or postnatal complications. His motor and social developmental milestones were normal for his age, while patient had aphasia as well as deafness since birth. There was no similar history in any of the relatives of both the parents. On examination; child was of average built, weighing 14.2 kg, and having a height of 97.5 cm and head circumference was 50.3 cm. Weight and height lied on 15 th centile and head circumference was on 25 th percentile according to World Health Organization (WHO) growth curves. Vital parameters were stable and there was severe sensorineural hearing deficit on ear, nose, and throat (ENT) examination (audiometric examination showed moderate hearing impairment on the right and severe impairment on the left). There were no dysmorphic features. Physical and systemic examination were normal except musculoskeletal system which revealed the absence of index, middle, and ring fingers in right upper limb and absence of foot in left lower limb [Figure 1] and [Figure 2].
Written consent was obtained from the patient's father for the publication of case report along with photographs.
| Discussion|| |
SHFM is a limb malformation involving the central rays of the autopod and presenting with syndactyly; median clefts of the hands and feet; and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.  Two modes of expression exist for SHFM, including an isolated nonsyndromic form limited just to the limbs and syndromic expression involving other anomalies such as tibial aplasia, mental retardation, ectodermal dysplasia, craniofacial findings, orofacial clefting, and deafness.  Its incidence has been reported to be about 1 in 90,000 babies with no sex predilection.
Five different genetic mutations are known to be associated with SHFM. Most frequent variety, type I, is due to a mutation on chromosome 7 in a region that contains two homeobox genes, DLX5 and DLX6.  Very few cases of SFHM with deafness were reported in the literature. Wildervanck  (1963) first observed the association of SHFM with sensorineural hearing loss in two sons of unrelated parents. Birch-Jensen  (1949) mentioned a sporadic case of this association, and Fraser  (1976) reported a brother and sister with this combination. Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) can be caused by homozygous mutation in the DLX5 gene (OMIM 600028) on chromosome 7q21.  Some families with SHFM1 (183,600) and neurosensory hearing loss have been described by Tackels-Horne et al. (2001).  Our case belongs to syndromic type of SHFM, as deafness was present along with SHFM.
Although most cases of SHFM are sporadic, familial forms also exist with predominantly autosomal dominant inheritance.  Syndromic SHFM has variable degrees of expression. The nonsyndromic SHFM limited to the hands and feet, usually follows the pattern of inheritance of a regular autosomal dominant gene with a high penetrance. 
There may be a possibility of recurrence of the disease in the future siblings, so parents should be counseled for this condition. Antenatal diagnosis by ultrasonography is important. Ultrasonography is not only important for antenatal diagnosis of developmental defect of fetal limb, but also excludes the potentially serious associated anomalies.  A three-dimensional sonographic image of this anomaly confirmed the diagnosis.  Most cases of SHFM type 1 do not require surgical intervention, and most individuals with SHFM type 1 live normal lives with modest functional impairment of the hands. Ectrodactyly can be treated surgically by using prosthetics in order to improve the function and appearance.
| References|| |
Pinette M, Garcia L, Wax JR, Cartin A, Blackstone J. Familial ectrodactyly. J Ultrasound Med 2006;25:1465-7.
Duijf P, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot -malformation. Hum Mol Genet 2003;12 Spec No 1:R51-60.
Durowaye M, Adeboye M, Kongoila SY, Adaje A, Adesiyun O, Ernest SK, et al
. Familial ectrodactyly syndrome in a Nigerian child: A case report. Oman Med J 2011;26:275-8.
Kohler R, Sousa P, Jorge CS. Prenatal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. J Ultrasound Med 1989;8:337-9.
Elliott AM, Evans JA. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. Am J Med Genet 2006;140A: 1419-27.
Wildervanck LS. Deafness associated with split hands and feet in two siblings: A new syndrome. Cong Genet (The Hague) 1963;11:286-7.
Birch-Jensen A. Congenital Deformities of the Upper Extremities. Domus Biologiae Hereditariae Humanae: Universitatis Hafniensis. Copenhagen: Andelsbogtrykkeriet i Odense and Det danske Forlag, 1949. p. 55
Fraser GR. The Causes of Profound Deafness in Childhood. Baltimore: Johns Hopkins Univ. Press; 1976. p. 70.
#220600 split-hand/foot malformation 1 with sensorineural hearing loss; SHFM1D http://omim.org/entry/220600
Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de Mollerat X, Fischetto R, et al
. Split hand/split foot malformation with hearing loss: First report of families linked to the SHFM1 locus in 7q21. Clin Genet 2001;59:28-36.
[Figure 1], [Figure 2]