Popliteal pterygium syndrome: case report from rural India


  • Vasav D. Desai Consultant Pediatrician and Neonatologist, Kasturba Hospital, Jhagadia, Gujarat, India
  • Gayatri S. Desai Department of Obstetrics and Gynecology, Kasturba Hospital, Jhagadia, Gujarat, India
  • Nirav Raulji Consultant Pediatrician and Neonatologist, Kasturba Hospital, Jhagadia, Gujarat, India




Autosomal dominant disorder, Bifid scrotum, Cleft lip, Cleft palate, Congenital talipes equinovarus, Popliteal pterygium syndrome


The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is also known as faciogenitopopliteal syndrome. It is autosomal dominant disorder. It has highly variable expressivity and incomplete penetrance. The incidence of the popliteal pterygium syndrome is 1/300000, which makes it an extremely rare condition. The most striking characteristic of this syndrome is popliteal pterygium, which consists of a net of connective tissue spreading from the ischial tuberosity to the calcaneus.In this study, authors present the case of a 1 day old male patient with cleft upper lip, cleft palate, bifid scrotum, popliteal pterygium and congenital talipes equinovarus (CTEV).



Gorlin RJ, Sedano HO, Cervenka J. Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatr. 1968;41(2):503-9.

Rintala A, Lahti A. The facio-genito-popliteal syndrome. Case report. Scand JPlast Reconstr Surg. 1970;4:67-71.

Froster-Iskenius UG. Popliteal pterygium syndrome. J Med Genet. 1990;27(5):320-6.

Escobar V, Weaver D. Popliteal pterygium syndrome. A phenotypic and genetic analysis. Med Genet. 1978;15:35-42.

Lees MM, Winter RM, Malcolm S, Saal HM, Chitty L. Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. J Med Genet. 1999;36(12):888-92.

Spauwen PH, Cobben JM, Gardeniers JW. The popliteal pterygium syndrome: an analysis of two families. J Craniomaxillofac Surg. 1994;22(5):276-80.

Koch H, Grzonka M, Koch J. Popliteal pterygium syndrome with special consideration of the cleft malformation: case report. Cleft Palate Craniofac J. 1992;29(1):80-4.

Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayse-rili H, et al. Mutation in RIPK4 Cause the autosomal recessive form of popliteal pterygium syndrome. Am J Hum Genet. 2011;90;76-85.

Cohen MM. Syndromes with cleft lip and cleft palate. Cleft Palate. 1978;15:306-28.

Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM. Limb pterygium syndromes: a review and report of eleven patients. Am J Med Genet. 1982;12:377-409.

Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T. Multiple pterygium syndrome. Am Dis Child. 1978;132:609-11.

Herold HZ, Shmueli G, Baruchin AM. Popliteal pterygium syndrome. Clin Orthop Relat Res. 1986;209:194-7.






Case Reports