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Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome

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Abstract

We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Möbius syndrome, but also those described, among others, under names such as aglossia-adactylia syndrome, glosso-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was possible to compare these cases quantitatively and to determine the nosologic significance of associated cranial nerve palsies and chest abnormalities. We analyzed 7 personal and 62 previously reported cases and found: 1. that the severity in the upper limbs and particularly, malformations of the feet, but not the presence or absence of cranial nerve palsies, is a significant feature in the differentiation of cases, and 2. that the group of patients with cranial nerve palsies includes some with limb defects similar to those in the Hanhart syndrome and others with features which overlap the manifestations of the Poland syndrome. Still other cases had cranial nerve palsy as an isolated trait or as a component manifestation of several different syndromes.

These findings permit re-definition and nosologic delimitation of the various syndromes as follows: 1. The Hanhart syndrome: usually severe limb defect of at least one hand or foot, frequently associated with severe oral abnormalities and sometimes also with cranial nerve palsy. Most cases reported as aglossia-adactylia syndrome, aglossia-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Möbius syndrome describe instances of the Hanhart syndrome. 2. The Poland-Möbius syndrome: we suggest this term to refer to those cases of “Möbius syndrome” which have a chest defect and/or symbrachydactyly of the type seen in the Poland syndrome. We suspect that these cases of the “Möbius syndrome,” and most of the cases which are usually diagnosed as Poland syndrome represent a different spectrum of the same condition, hence the term Poland-Möbius syndrome. 3. The autosomal dominant cleft palate/lateral synechiae syndrome delineated by Fuhrmann et al. and other apparently less frequent conditions are mentioned in the discussion.

Cranial nerve palsy obviously occurs in several etiologically distinct conditions. An analogous situation is present, although less obvious, in the Hanhart and the Poland-Möbius syndrome. Both of these conditions are formal genesis malformation syndromes which implies that they are etiologically non-specific developmental field complexes. In the Hanhart syndrome Bersu et al. postulate a common pathogenetic disturbance for oral and limb defects, thus suggesting that the manifestations represent a single anomaly rather a “syndrome.” This anomaly, for which we suggest the term Kettner anomaly, may occur not only in the Hanhart syndrome but also in other conditions. Similarly, the Poland anomaly, i.e. symbrachydactyly and ipsilateral pectoralis muscle hypoplasia, may occur in the Poland-Möbius syndrome as well as in other conditions.

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References

  1. Allen, I. M.: Congenital bilateral ophthalmoplegia and facial paralysis with other congenital defects. Proc. roy. Soc. Med. 25/1, 45–46 (1932)

    Google Scholar 

  2. Armendares, S.: Absence of pectoralis major muscle in two sisters associated with leukemia in one of them. J. Pediat. 85, 436–437 (1974)

    Google Scholar 

  3. Banquer, E., Galvin, J. J.: Aglosia y peromelia; presentación de un caso de esta rarisima anomalía. Rev. Asoc. odont. argent. 61, 219–221 (1973)

    Google Scholar 

  4. Becker-Christensen, F., Lund, H. T.: A family with Möbius syndrome. J. Pediat. 84, 115–117 (1974)

    Google Scholar 

  5. Bedrossian, E. H., Lachman, B. E.: Congenital paralysis of sixth and seventh nerves. Amer. J. Ophthal. 41, 304–308 (1956)

    Google Scholar 

  6. Berendes, J.: Angeborene Synechie zwischen der Mundbodenschleimhaut und den Oberkieferfortsätzen am Rande einer Gaumenspalte. Beih. Z. Hals-, Nas.- u. Ohrenheilk. 9, 180–182 (1961)

    Google Scholar 

  7. Berendt, H.: Case report of partial anodontia connected with missing and stunted phalanges of hands and feet. Oral Surg. 1, 283–290 (1948)

    Google Scholar 

  8. Bernard, R., Giraud, F., Lachard, J., Garcin, M., Gola, R., Roux, J., Thureau, E.: Syndrome aglossie adactylie avec synostose bimaxillaire anterieure. Pédiatrie 26, 877–883 (1971)

    Google Scholar 

  9. Bersu, E. T., Pettersen, J. C., Charboneau, W. J., Opitz, J. M.: Studies of malformation syndromes of man XXXXIA: Anatomical studies in the “Hanhart syndrome” — a pathogenetic hypothesis. Europ. J. Pediat. 121, 1–17 (1976)

    Google Scholar 

  10. Bünnige, M.: Angeborene Zungen-Munddach-Verwachsung (Ankyloglossum Superius congenitum). Ann. paediat. (Basel) 194, 173–180 (1960)

    Google Scholar 

  11. Cameron, H. C.: Congenital nuclear hypoplasia (Moebius) involving the facial and oculomotor nuclei in association with other congenital abnormalities. Proc. roy. Soc. Med. 17/1, 28–29 (1924)

    Google Scholar 

  12. Cohen, M. M., Jr., Pantke, H., Siris, E.: Nosologic and genetic considerations in the aglossy-adactyly syndrome. Birth Defects Original Article Series VII/7, 237–240 (1971)

    Google Scholar 

  13. Cohen, M. M., Jr.: Glossopalatine ankylosis, microglossia, hypodontia and limb anomalies. Birth defects atlas and compendium (ed. D. Bergsma), pp. 436–437. Baltimore: Williams and Wilkins 1973a

    Google Scholar 

  14. Cohen, M. M., Jr.: Micrognathia and limb anomalies. Birth defects atlas and compendium (ed. D. Bergsma), pp. 615–616. Baltimore: Williams and Wilkins 1973b

    Google Scholar 

  15. Cosack, G.: Die angeborene Zungen-Munddach-Verwachsung als Leitmotiv eines Komplexes von multiplen Abartungen. Z. Kinderheilk. 72, 240–257 (1953)

    Google Scholar 

  16. Cosman, B., Crikelair, G. F.: Midline branchiogenic syndromes. Plast. reconstr. Surg. 44, 41–48 (1969)

    Google Scholar 

  17. De Jussieu, A.: Observation sur la manière dont une fille sans langue s'acquite des fonctions qui dépendent de cet organe. Bulletin de L'Academie Royale des Sciences (Paris). Mémoire 6–14 (1718)

  18. Dekaban, A. S.: The outcome of pregnancy in diabetic women. II. Analysis of clinical abnormalities and pathological lesions in offspring of diabetic mothers. J. Pediat. 55, 767–776 (1959)

    Google Scholar 

  19. Edgerton, M. T., Tuerk, D., Fisher, J. C.: Surgical treatment of Moebius syndrome by platysma and temporalis muscle transfer. Plast. reconstr. Surg. 55, 305–311 (1975)

    Google Scholar 

  20. Ehrenhaft, J. L., Rossi, N. P., Lawrence, M. S.: Developmental chest wall defects. Ann. Thorac. Surg. 2, 384–395 (1966)

    Google Scholar 

  21. Elsahy, N. I.: Moebius syndrome associated with the mother taking thalidomide during gestation. Plast. reconstr. Surg. 51, 93–95 (1973)

    Google Scholar 

  22. Ernst, T., Meinhold, G.: Ein Beitrag zur angeborenen Aglossie Dtsch. Zahn-, Mund- u. Kieferheilk. 43, 375–384 (1964)

    Google Scholar 

  23. Esau, P.: Seltene angeborene Mißbildungen: 2. Verwachsung der Zungenspitze mit dem harten Gaumen. Arch. klin. Chir. 118, 817–820 (1921)

    Google Scholar 

  24. Eskew, H. A., Shepard, E. E.: Congenital aglossia: a case report. Amer. J. Orthodont. Oral Surg. 35, 116–119 (1949)

    Google Scholar 

  25. Evans, P. R.: Nuclear agenesis. Arch. Dis. Childh. 30, 237–243 (1955)

    Google Scholar 

  26. Farrington, R. K.: Aglossia congenita. Report of a case without other congenital malformations. N. C. med. J. 8, 24–26 (1947)

    Google Scholar 

  27. Frantz, C. H., O'Rahilly, R.: Congenital skeletal limb deficiencies. J. Bone Jt Surg. 43-A, 1202–1224 (1961)

    Google Scholar 

  28. Fry, F. R., Kasak, M.: Congenital facial paralysis. Arch. Neurol. Psychiat. 2, 638–644 (1919)

    Google Scholar 

  29. Fuhrmann, W., Mösseler, U., Neuss, H.: Zur Klinik und Genetik des Poland-Syndroms. Dtsch. med. Wschr. 96, 1076–1078 (1971)

    Google Scholar 

  30. Fuhrmann, W., Koch, F., Schwedendiek, W.: Autosomal dominante Vererbung von Gaumenspalte und Synechien zwischen Gaumen und Mundboden oder Zunge. Humangenetik 14, 196–203 (1972)

    Google Scholar 

  31. Fulford, G. E., Ardran, G. M., Kemp, F. H.: Aglossia congenita. Arch. Dis. Childh. 31, 400–407 (1956)

    Google Scholar 

  32. Garner, L. D., Bixler, D.: Micrognathia, an associated defect of Hanhart's syndrome, types II and III. Oral Surg. 27, 601–606 (1969)

    Google Scholar 

  33. Gorlin, R. J.: Some facial syndromes. Birth Defects Original Article Series V/2, 65–76 (1969)

    Google Scholar 

  34. Gorlin, R. J.: Aglossoadactyly. Birth defects atlas and compendium (ed. D. Bergsma), p. 150. Baltimore: Williams and Wilkins 1973

    Google Scholar 

  35. Gorlin, R. G., Cohen, M. M., Jr., Pindborg, J.: Oromandibular-limb hypogenesis syndromes (Charlie M. syndrome, glossopalatine ankylosis syndrome, Hanhart syndrome, hypoglossia-hypodactylia-hypomelia syndrome, Moebius syndrome). In: Syndromes of the head and neck, 2nd ed. New York: McGraw-Hill (in press)

  36. Grislain, J., Mainard, R., De Berranger, P., Brelet, G., Cadudal, J. L., Billet, J.: Aglossieadactylie et syndrome d'Hanhart. Pédiatrie 26, 353–364 (1971)

    Google Scholar 

  37. Gütermann, F.: Ein Fall von multiplen Hirnnervenlähmungen mit gleichzeitigen Mißbildungen am Thorax und an der rechten oberen Extremität. Dtsch. Z. Nervenheilk. 57, 203–226 (1917)

    Google Scholar 

  38. Gutzmann Ein Fall von angeborener Diplegie des Facialis und Abducens. Dtsch. med. Wschr. 31, 2033 (1905)

    Google Scholar 

  39. Hall, B. D.: Aglossia-adactylia. Birth Defects Original Article Series VII/7, 233–236 (1971)

    Google Scholar 

  40. Hanhart, E.: Zur Genetik einiger Deformitäten (Mikrotie, Peromelie, Pollex varus, Hydrocephalie, Microcephalie) und zur Genese sog. amniotischer Abschnürungen. 7. Jahresber. Schweiz. Ges. f. Vererbungsforschg. Arch. Klaus-Stift. Vererb.-Forsch. 22, 326 (1947)

    Google Scholar 

  41. Hanhart, E.: Über die Kombination von Peromelie mit Mikrognathie, ein neues Syndrom beim Menschen, entsprechen der Akroteriasis congenita von Wriedt und Mohr beim Rinde. Arch. Klaus-Stift. Vererb.-Forsch. 25, 531–544 (1950)

    Google Scholar 

  42. Hanissian, A. S., Fuste, F., Hayes, W. T., Duncan, J. M.: Möbius syndrome in twins. Amer. J. Dis. Child. 120, 472–475 (1970)

    Google Scholar 

  43. Harrison, M., Parker, N.: Congenital facial diplegia. Med. J. Aust. 47/1, 650–653 (1960)

    Google Scholar 

  44. Harwin, S. M., Lorinsky, L. C.: Aglossia-adactylia syndrome: Picture of the month. Amer. J. Dis. Child. 119, 255–256 (1970)

    Google Scholar 

  45. Hayward, J. R., Avery, J. K.: A variation in eleft palate. J. Oral Surg. 15, 320–324 (1957)

    Google Scholar 

  46. Hellström, B.: Congenital facial diplegia. Acta paediat. scand. 37, 464–473 (1949)

    Google Scholar 

  47. Henderson, J. L.: The congenital facial diplegia syndrome: Clinical features, pathology and aetiology. Brain 62, 381–403 (1939)

    Google Scholar 

  48. Herrmann, J., Opitz, J. M.: Naming and nomenclature of syndromes. Birth Defects Original Article Series X/7, 69–86 (1974)

    Google Scholar 

  49. Hicks, A. M.: Congenital paralysis of lateral rotators of eyes with paralysis of muscles of face. Arch. Ophthal. 30, 38–42 (1943)

    Google Scholar 

  50. Hoggins, G. S.: Aglossia congenita with bony fusion of the jaws. Brit. J. Oral Surg. 7, 63–65 (1969–1970)

    Google Scholar 

  51. Illera, M. D.: Abstract from El Siglo Medico, pressmably from the year 1887. Congenital occlusion of the pharynx. Lancet 1887 I, 742

  52. Jörgenson, R. J.: Moebius syndrome, ectrodactyly, hypoplasia of tongue and pectoral muscles. Birth Defects Original Article Series VII/7, 283–384 (1971)

    Google Scholar 

  53. Jürgenssen, O. J.: Seltener Fall einer Zungenverwachsung. Öst. Z. Kinderheilk. 1, 118–120 (1947)

    Google Scholar 

  54. Kelin, E. E., Bennett, C. G., Klingberg, W. G.: Aglossia-adactylia syndrome. Amer. J. Dis. Child. 116, 549–552 (1968)

    Google Scholar 

  55. Kettner: Kongenitaler Zungedefekt. Dtsch. med. Wschr. 33, 532 (1907)

    Google Scholar 

  56. Kramer, W.: Zur Entstehung der angeborenen Gaumenspalte. Zbl. Chir. 38, 385–387 (1911)

    Google Scholar 

  57. Lanzkowsky, P.: Absence of pectoralis major muscle in association with acute leukemia. J. Pediat. 86, 817–818 (1975)

    Google Scholar 

  58. Marden, P. M.: The syndrome of ankyloglossia superior Minn. Med. 49, 1223–1225 (1966)

    Google Scholar 

  59. Masaki, S.: Congenital bilateral facial paralysis. Arch. Otolaryng. 94, 260–263 (1971)

    Google Scholar 

  60. Martius, G., Walter, S.: Peromelie und Mikrognathie als Mißbildungskombination (Hanhartsches Syndrom). Geburtsh. u. Frauenheilk. 14, 558–563 (1954)

    Google Scholar 

  61. Mathis, H.: Über einen Fall von Ernährungsschwierigkeit bei connataler Synganthie. Dtsch. zahnärztl. Z. 17, 1167–1171 (1962)

    Google Scholar 

  62. Miller, R. A., Miller, D. R.: Congenital absence of the pectoralis major muscle with acute lymphoblastic leukemia and genitourinary tract anomalies. J. Pediat. 87, 146–147 (1975)

    Google Scholar 

  63. Möbius, P. J.: Über angeborene doppelseitige Abducens-Facialis-Lähmung. Münch. med. Wschr. 35, 91–94 (1888)

    Google Scholar 

  64. Nevin, N. C., Dodge, J. A., Kernohan, D. C.: Aglossia-adactylia syndrome. Oral Surg. 29, 443–446 (1970)

    Google Scholar 

  65. Nevin, N. C., Burrows, D., Allen, G., Kernohan, D. C.: Aglossia-adactylia syndrome. J. med. Genet. 12, 89–93 (1975)

    Google Scholar 

  66. Orth, O.: Beiderseitiger Spaltfuß und Spalthand, combiniert mit partiellem rechtsseitigem Pectoralisdefekt. Arch. klin. Chir. 91, 282–294 (1909)

    Google Scholar 

  67. Pettersson, G.: Aglossia congenita with bony fusion of the jaws; report of one case. Acta chir. scand. 122, 93–95 (1961)

    Google Scholar 

  68. Phélip, J.-A.: Ankyloglosse supérieur congenital. Arch. Méd. Enf. 23, 243–244 (1920)

    Google Scholar 

  69. Pierson, M., Tridon, P., André, J. M.: Syndrome de Moebius associé a des malformations des extrémites. A propos de cinq observations. J. Génét. hum. 22, 329–340 (1974)

    Google Scholar 

  70. Richards, R. N.: The Möbius syndrome. J. Bone Jt Surg. 35-A, 437–444 (1953)

    Google Scholar 

  71. Rosenthal, R.: Aglossia congenita. Report of a case of the condition combined with other congenital malformations. Amer. J. Dis. Child. 44, 383–389 (1932)

    Google Scholar 

  72. Schmidt, A.: Angeborene multiple Hirnnervenlähmung mit Brustmuskeldefekt. Dtsch. Z. Nervenheilk. 10, 400–409 (1897)

    Google Scholar 

  73. Scott, C. I.: Aglossia-adactylia syndrome. Birth Defects Original Article Series VII/7, 281 (1971). (Same patient as in ref. 83, p. 129)

    Google Scholar 

  74. Scribanu, N., Temtamy, S.: The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs. J. Pediat. 87, 79–82 (1975)

    Google Scholar 

  75. Shambes, G. M., Waterland, J. C.: Stance characteristics of a quadrilateral amputee. Bull. Prosthetic Res. 10–13, 173–182 (1970)

    Google Scholar 

  76. Shambes, G. M., Waterland, J. C.: Stance characteristics of a quadrilateral amputee. Addendum. Bull. Prosthetic Res. 10–15, 102–106 (1971)

    Google Scholar 

  77. Shear, M.: Congenital underdevelopment of the maxilla associated with partial adactylia, partial anodontia and microglossia. J. dent. Ass. S. Afr. 11, 78–83 (1956)

    Google Scholar 

  78. Sinclair, J. G., McKay, J.: Median harelip, cleft palate and glossal agenesis. Anat. Rec. 91, 155–160 (1945)

    Google Scholar 

  79. Spivack, J., Bennett, J. E.: Glossopalatine ankylosis. Plast. reconstr. Surg. 42, 129–136 (1968)

    Google Scholar 

  80. Sprofkin, B. E., Hillman, J. W.: Moebius's syndrome — congenital oculofacial paralysis. Neurology 6, 50–54 (1956)

    Google Scholar 

  81. Sugarman, G. I., Stark, H. H.: Möbius syndrome with Poland's anomaly. J. med. Genet. 10, 192–196 (1973)

    Google Scholar 

  82. Sutor, A. H., Ross, K., Reinwein, H.: Poland-Syndrom beim Neugeborenen. Klin. Pädiat. 186, 174–177 (1974)

    Google Scholar 

  83. Temtamy, S., McKusick, V. A.: Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects Original Article Series V/3, 125–184 (1969)

    Google Scholar 

  84. Thomas, H. M.: Congenital facial paralysis. J. nerv. ment. Dis. 25, 571–591 (1898)

    Google Scholar 

  85. Thornton, M.: Pierre Robin syndrome: A single clinical history. J. Dent. Child. 33, 27–32 (1966)

    Google Scholar 

  86. Trautmann, D.: Beitrag zur Kasuistik kongenitaler Facialisparesen. Z. ges. Neurol. Psychiat. 100, 289–298 (1926)

    Google Scholar 

  87. Tridon, P., André, J.-M., André, M., Brichet, B., Arnould, G.: Syndrome de Moebius et amyotrophies des membres. Rév. Neurol. 124, 367–378 (1971)

    Google Scholar 

  88. Van der Wiel, H. J.: Hereditary congenital facial paralysis. Acta genet. (Basel) 7, 348 (1957)

    Google Scholar 

  89. Walters, T. R., Reddy, B. N., Bailon, A., Vitale, L. F.: Poland's syndrome associated with leukemia. J. Pediat. 82, 889 (1973)

    Google Scholar 

  90. Webber, S. G.: Congenital ophthalmoplegia externa. Boston med. surg. J. 163, 721–723 (1910)

    Google Scholar 

  91. Wehinger, H.: Kiefermißbildung und Peromelie. Mißbildungskomplex mit Beziehungen zum sogenannten Hanhart-Syndrom II und Ankyloglossum superius Cosack. Z. Kinderheilk. 108, 46–53 (1970)

    Google Scholar 

  92. Wexler, M. R., Novark, B. W.: Hanhart's syndrome; case report. Plast. reconstr. Surg. 54, 99–101 (1974)

    Google Scholar 

  93. Wilson, R. A., Kliman, M. R., Hardyment, A. F.: Ankyloglossia superior/palatoglossal adhesion in the newborn infant. Pediatrics 31, 1051–1054 (1963)

    Google Scholar 

  94. Ziehen: Beziehungen zwischen angeborenen Muskeldefekten, infantilem Kernschwund und Dystrophia muscularis infantilis progressiva. Berl. klin. Wschr. 45, 1557 (1908)

    Google Scholar 

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Authors and Affiliations

  1. Wisconsin Clinical Genetics Center of the Department of Medical Genetics, 53706, Madison, Wisconsin

    J. Herrmann & J. M. Opitz

  2. Department of Pediatrics, the University of Wisconsin Center for Health Sciences and Medical School, 53706, Madison, Wisconsin

    J. Herrmann, E. F. Gilbert & J. M. Opitz

  3. Department of Pathology, the University of Wisconsin Center for Health Sciences and Medical School, 53706, Madison, Wisconsin

    E. F. Gilbert & C. Viseskul

  4. Department of Anatomy, the University of Wisconsin Center for Health Sciences and Medical School, 53706, Madison, Wisconsin

    E. Bersu & J. C. Pettersen

  5. Boulder River School and Hospital, 59632, Boulder, Montana

    P. D. Pallister

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Supported by USPHS/NIH Grant GM 20 130, Paper No. 1893 from the University of Wisconsin Genetics Laboratory.

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Herrmann, J., Pallister, P.D., Gilbert, E.F. et al. Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome. Eur J Pediatr 122, 19–55 (1976). https://doi.org/10.1007/BF00445030

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