Congenital hand anomalies and rare syndromes in children


  • Deepa Shetty Department of Pediatrics, ESIC Model Hospital, Vapi, Gujarat, India
  • Paras Patel Department of Pediatrics, ESIC Model Hospital, Vapi, Gujarat, India
  • Rohan Shetty Department of ENT, ESIC, MHB, Ahmedabad, Gujarat, India
  • Sanjay Vansh Department of ENT, ESIC Model Hospital, Vapi, Gujarat, India



Polydactyly, Ectrodactyly, Ectodermal dysplasia, Cleft palate, Amniotic band syndrome, Childhood obesity


Congenital hand anomalies and associated rare syndromes in children are commonly seen in clinical practice and require complete clinical, radiological and genetic evaluation. The purpose of this case series is to describe four rare syndromic children with varied hand anomalies and differences. Three of the children are female and one is a male. Distal limb defects from simple polydactyly, clinodactyly to cleft hand were identified including preaxial anomalies. Significant clinical problems noted were chiefly cosmetic and altered self-image was also noted in one child. The orofacial clefting noted in the child with ectrodactyly ectodermal dysplasia (EEC) syndrome required repeated surgery though the child had minimal feeding difficulty and significant speech delay. Multidisciplinary management is necessary with the early involvement of clinical geneticist.



Congenital Hand Deformities/Johns Hopkins Medicine. Health. Available at: https://www.hopkins Accessed on 06 January 2023.

Wu JK, Williams S. Thrombocytopenia-Absent Radius Syndrome. Hematologic Disorders. Rare Diseases. Diseases and Conditions. Medscape. Available at: article/959 262 -overview?src=mbl_msp_android& ref=share. Accessed on 06 January 2023.

Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002;39(12):876-81.

Fleischman RA, Letestu R, Mi X, Stevens D, Winters J, Debili N, et al. Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome. Br J Haematol. 2002;116(2):367-75.

Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007;80(2):232-40.

Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaertc. New insights into the genetic basis of TAR (thrombocytopenia -absent radii) syndrome. Curr Opin Genet Dev. 2013;23(3):316-23.

Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA. Compound inheritance of a low-frequency regulatory SNP and rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012;44(4):435-9.

Le Hir H, Gatfield D, Izaurralde E, Moore MJ. The exon-exon junction complex provides a binding platform for factors involved in mRNA export and non-sense-mediated mRNAdecay. EMBO J. 2001;20(17):4987-97.

Le Hir H, Izaurralde E, Maquat LE, Moore MJ. The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNAexon -exon junctions EMBO J. 2000;19(24):6860-9.

Kaul M, Dwivedi R, Upadhyay V. Ectrodactyly-ectodermal dysplasiaclefting syndrome (EEC syndrome). J Oral Biol Craniofac Res. 2014;4(2):135-9.

Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. Am J Med Genet A. 2009;149A(9):1980-2002.

Sabhlok S, Mishra S, Tripathy R, Mony D. Ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome: a rare entity. Plastic Aesthetic Res.2015;2(1):290-3.

Shah KN. Ectodermal Dysplasia. 2019. Pediatric Diseases. Rare Diseases. Diseases & Conditions. Medscape. Available at: https://emedicine.medscape. com/article/1110595-overview?src=mbl_msp_ android&ref=share. Accessed on 06 January 2023.

Okamura E, Suda N, Baba Y, Fukuoka H, Ogawa T, Ohkuma M, et al. Dental and maxillofacial characteristics in six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Cleft Palate Craniofac J. 2012;11.

Priolo M. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009;149(9):2003-13.

Shetty P, Menezes LT, Tauro LF, Diddigi KA. Amniotic band syndrome. Indian J Surg. 2013;75(5):401-2.

Tadmor OP, Kreisberg GA, Achiron R, Porat S, Yagel S. Limb amputation in amniotic band syndrome: serial ultrasonographic and Doppler observations. Ultrasound Obstet Gynecol. 1997;10:312-5.

Do TT. Amniotic Band Syndrome (Streeter Dysplasia). 2020. Pediatrics. Orthopedic Surgery. Diseases & Conditions. Medscape. Available at: ref=share. Accessed on 06 January 2023.

Light TR. Growth and development of the hand. Carter PR, editor. Reconstruction of the Child’s Hand. Philadelphia: Lea & Febiger. 1991;122.

Iba K, Wada T, Yamashita T. Pre-operative findings of acrosyndactyly and sharpening of distal portion of the phalanx related to post-operative fingertip pain in constriction band syndrome. J Hand Surg Eur. 2012;37(3):287-8.

Soldado F, Aguirre M, Peiro JL, Carreras E, Arevalo S, Fontecha CG, et al. Fetoscopic release of extremity amniotic bands with risk of amputation. J Pediatr Orthop. 2009;29:290-3.

Kawamura K, Chung KC. Constriction band syndrome Hand Clin. 2009;25:257-64.

Iqbal CW, Derderian SC, Cheng V, Lee H, Hirose S. Amniotic band syndrome: a single-institutional experience. Fetal Diagn Ther. 2015;37(1):1-5.

López-Muňoz E, Becerra-Solano LE. An update on amniotic bands sequence. Arch Argent Pediatr. 2018;116(3):e409-20.

Hennigan SP, Kuo KN. Resistant talipes equinovarus associated with congenital constriction band syndrome. J Pediatr Orthop. 2000;20(2):240-5.

Beales PL, Elciogler N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl Syndrome: results of a population survey. J Med Genet.1999;36(6):437-46.

Sathya P, Sheela N, Parveen S, Sripriya S. Bardet-Biedl syndrome: Genetics, molecular pathophysiology and disease management. Indian J Opthalmol. 2016;64(9):620-7.






Case Series