Radial Longitudinal Deficiency: Severity Differences Between U.S. and Japanese Cohorts

Published:January 17, 2020DOI:


      Radial longitudinal deficiency (RLD) presents on a spectrum of severity and associated diagnoses. The literature is limited in describing patient presentation without comparative data between countries. In a study comparing 2 cohorts of patients, 1 in the United States and 1 in Japan, we hypothesized that there would be a similar presentation of forearm deficiency severity, thumb hypoplasia severity, and associated syndromes between the 2 cohorts.


      Patients with RLD were identified via a comprehensive chart review at 2 pediatric hospital cohorts, 1 in the United States and 1 in Japan, capturing patients presenting over 15 years. We assessed RLD and thumb hypoplasia severity via a modified Bayne and Klug and modified Blauth classifications. The relationship between these 2 diagnoses and the presence of common medical conditions were evaluated and correlated.


      A total of 194 Japanese patients with 290 involved extremities were compared with 107 U.S. patients with 174 involved extremities. The U.S. cohort had a significantly more severe RLD, and a higher rate of bilaterality (63% vs 50%, respectively). A total of 131 Japanese patients (68%) and 41 U.S. patients (38%) had associated medical syndromes/associations, most frequently vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects (VACTERL; 46 Japanese, 14 U.S.), Holt-Oram (44 Japanese, 5 U.S.), and thrombocytopenia absent radius syndrome (0 Japanese, 12 U.S.). Correlation analysis showed that increased RLD severity was associated with increased thumb hypoplasia severity in both groups, with 95% of modified Bayne and Klug III, IV, or V patients having severely affected thumbs (type IIIb, IV, or V).


      The U.S. patients had a more severe RLD and a higher rate of bilaterality. Japanese patients had a higher incidence of associated syndromes and radial polydactyly. Both cohorts showed that increased forearm severity was associated with more severe thumb hypoplasia.

      Type of study/level of evidence

      Differential diagnosis/symptom prevalence study III.

      Key words

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Journal of Hand Surgery
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


      1. Flatt A. The Care of Congenital Hand Anomalies. 2nd ed. Quality Medical Publishing, St. Louis1994
        • James M.
        • Bauer A.
        Malformations and deformities of the wrist and forearm—clinical key.
        in: Wolfe S.W. Pederson W.C. Hotchkiss R.N. Kozin S.H. Cohen M.S. Green's Operative Hand Surgery. 7th ed. Elsevier, Philadelphia2017: 1328-1364
        • Koskimies E.
        • Lindfors N.
        • Gissler M.
        • Peltonen J.
        • Nietosvaara Y.
        Congenital upper limb deficiencies and associated malformations in Finland: a population-based study.
        J Hand Surg Am. 2011; 36: 1058-1065
        • James M.A.
        • McCarroll Jr., H.R.
        • Manske P.R.
        The spectrum of radial longitudinal deficiency: a modified classification.
        J Hand Surg Am. 1999; 24: 1145-1155
        • James M.A.
        • McCarroll Jr., H.R.
        • Manske P.R.
        Characteristics of patients with hypoplastic thumbs.
        J Hand Surg Am. 1996; 21: 104-113
        • Goldfarb C.A.
        • Wall L.
        • Manske P.R.
        Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions.
        J Hand Surg Am. 2006; 31: 1176-1182
        • Goldfarb C.A.
        • Manske P.R.
        • Busa R.
        • Mills J.
        • Carter P.
        • Ezaki M.
        Upper-extremity phocomelia reexamined: a longitudinal dysplasia.
        J Bone Joint Surg Am. 2005; 87: 2639-2648
        • Cox H.
        • Viljoen D.
        • Versfeld G.
        • Beighton P.
        Radial ray defects and associated anomalies.
        Clin Genet. 1989; 35: 322-330
        • Goldberg M.J.
        • Bartoshesky L.E.
        Congenital hand anomaly: etiology and associated malformations.
        Hand Clin. 1985; 1: 405-415
        • Neel J.V.
        A study of major congenital defects in Japanese infants.
        Am J Hum Genet. 1958; 10: 398-445
        • Kuroki Y.
        • Konishi H.
        Current status and perspectives in the Kanagawa birth defects monitoring program (KAMP).
        Congenit Anom (Kyoto). 1984; 24: 385-393
        • Froster U.G.
        • Baird P.A.
        Upper limb deficiencies and associated malformations: a population-based study.
        Am J Med Genet. 1992; 44: 767-781
        • Rogala E.J.
        • Wynne-Davies R.
        • Littlejohn A.
        • Gormley J.
        Congenital limb anomalies:frequency and aetiological factors. Data from the Edinburgh Register of the Newborn (1964–68).
        J Med Genet. 1974; 11: 221-233
        • Vasluian E.
        • van der Sluis C.K.
        • van Essen A.J.
        • et al.
        Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.
        BMC Musculoskelet Disord. 2013; 14: 323
        • Ekblom A.G.
        • Laurell T.
        • Arner M.
        Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007: a total population study from Stockholm, Sweden.
        J Hand Surg Am. 2010; 35: 1742-1754
        • Kallen B.
        • Rahmani T.M.
        • Winberg J.
        Infants with congenital limb reduction registered in the Swedish Register of Congenital Malformations.
        Teratology. 1984; 29: 73-85
        • Aro T.
        • Heinonen O.P.
        • Saxén L.
        Incidence and secular trends of congenital limb defects in Finland.
        Int J Epidemiol. 1982; 11: 239-244
        • Bedard T.
        • Lowry R.B.
        • Sibbald B.
        • Kiefer G.N.
        • Metcalfe A.
        Congenital limb deficiencies in Alberta—a review of 33 years (1980–2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).
        Am J Med Genet A. 2015; 167A: 2599-2609
        • Bayne L.G.
        • Klug M.S.
        Long-term review of the surgical treatment of radial deficiencies.
        J Hand Surg Am. 1987; 12: 169-179
        • James M.A.
        • Green H.D.
        • McCarroll Jr., H.R.
        • Manske P.R.
        The association of radial deficiency with thumb hypoplasia.
        J Bone Joint Surg Am. 2004; 86: 2196-2205
        • Goldfarb C.A.
        • Wall L.B.
        • Bohn D.C.
        • Moen P.
        • Van Heest A.E.
        Epidemiology of congenital upper limb anomalies in a midwest United States population: an assessment using the Oberg, Manske, and Tonkin classification.
        J Hand Surg Am. 2015; 40 (e1–e2): 127-132
        • Ogino T.
        • Minami A.
        • Fukuda K.
        • Kato H.
        Congenital anomalies of the upper limb among the Japanese in Sapporo.
        J Hand Surg Br. 1986; 11: 364-371
        • Miura T.
        Congenital hand anomalies, and their association with other congenital abnormalities.
        Hand. 1981; 13: 267-270
        • Kato H.
        • Ogino T.
        • Minami A.
        • Ohshio I.
        Experimental study of radial ray deficiency.
        J Hand Surg Br. 1990; 15: 470-476
        • Ogino T.
        • Kato H.
        Clinical and experimental studies on teratogenic mechanisms of congenital absence of digits in longitudinal deficiencies.
        Congenit Anom (Kyoto). 1993; 33: 187-196
        • Miura T.
        • Nakamura R.
        • Horii E.
        Congenital hand anomalies in Japan: a family study.
        J Hand Surg Am. 1990; 15: 439-444
        • Blauth W.
        • Schneider-Sickert F.
        Congenital Deformities of the Hand: An Atlas of Their Surgical Treatment.
        Berlin: Springer, 1980
        • Wassel H.D.
        The results of surgery for polydactyly of the thumb. A review.
        Clin Orthop Relat Res. 1969; 64: 175-193
        • World Health Organization
        International Classification of Diseases, 9th Revision, Clinical Modification ed.
        World Health Organization, Geneva1996
        • World Health Organization
        International Classification of Diseases, 10th Revision.
        World Health Organization, Geneva2010
        • Erickson J.D.
        The International Clearinghouse for Birth Defects Monitoring Systems: past, present and future.
        Int J Risk Saf Med. 1991; 2: 239-248
        • Lechat M.F.
        • Dolk H.
        Registries of congenital anomalies: EUROCAT.
        Environ Health Perspect. 1993; 101: 153-157
        • Swanson A.B.
        A classification for congenital limb malformations.
        J Hand Surg Am. 1976; 1: 8-22
        • Oberg K.C.
        • Feenstra J.M.
        • Manske P.R.
        • Tonkin M.A.
        Developmental biology and classification of congenital anomalies of the hand and upper extremity.
        J Hand Surg Am. 2010; 35: 2066-2076
        • Luijsterburg A.J.
        • Sonneveld G.J.
        • Vermeij-Keers C.
        • Hovius S.E.
        Recording congenital differences of the upper limb.
        J Hand Surg Br. 2003; 28: 205-214
      2. International Clearinghouse for Birth Defects Surveillance and Research. Annual Report 2014. Rome, Italy: The International Centre on Birth Defects - ICBDSR Centre; 2014.

        • Sekine I.
        • Hagiwara T.
        • Miyazaki H.
        • et al.
        Thrombocytopenia with absent radii syndrome: studies on serum thrombopoietin levels and megakaryopoiesis in vitro.
        J Pediatr Hematol Oncol. 1998; 20: 74-78
        • Goldfarb C.A.
        • Wustrack R.
        • Pratt J.A.
        • Mender A.
        • Manske P.R.
        Thumb function and appearance in thrombocytopenia: absent radius syndrome.
        J Hand Surg Am. 2007; 32: 157-161
        • Al-Qattan M.M.
        Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events.
        Ann Plast Surg. 2013; 71: 118-124
        • Lam W.L.
        • Oh J.D.H.
        • Johnson E.J.
        • Pertinez S.P.
        • Stephens C.
        • Davey M.G.
        Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.
        J Hand Surg Eur Vol. 2019; 44: 43-50