European Journal of Pediatrics

, Volume 152, Issue 3, pp 211–217 | Cite as

Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

  • O. Mäkitie
  • I. Kaitila
Medical Genetics


Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below −2.0 SD in 70% of the patients; the adult heights ranged from −11.4 SD to −5.2 SD. The sitting height percentage was increased in all but 4 patients. Six patients had normal hair. Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and scoliosis in 21% of the patients. Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%. Childhood anaemia had occurred in 79% of the patients. It was usually mild, but severe in 14 patients. Hirschsprung disease had been observed in 8, anal stenosis in 1 and oesophageal atresia in 1 patient. The intrafamilial variation of the syndrome was considerable as studied in 16 sibships.

Key words

Cartilage-hair hypoplasia Metaphyseal chondrodysplasia Clinical manifestations Short stature Immunodeficiency 



cartilage-hair hypoplasia




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  1. 1.
    Boothby CB, Bower BD (1973) Cartilage hair hypoplasia. Arch Dis Child 48:919–921Google Scholar
  2. 2.
    Chang T, Weinstein L, MacMahon HE (1966) Paralytic poliomyelitis in a child with hypogammaglobulinemia: Probable implication of type I vaccine strain. Pediatrics 37:630–636PubMedGoogle Scholar
  3. 3.
    Dallman PR (1991) In: Dallman PR (ed) Rudolph's pediatrics. Appleton and Lange, Norwalk, p 1142Google Scholar
  4. 4.
    Dallman PR, Siimes MA (1979) Percentile curves for hemoglobin and red cell volume in infancy and childhood. J Pediatr 94:26–31PubMedGoogle Scholar
  5. 5.
    Fauchier C, Régy JM, Combe P (1969) Nanisme diastrophique familial avec maladie de Hirschsprung. Ann Pédiatr (Paris) 16:496–502Google Scholar
  6. 6.
    Francomano CA, Trojak JE, McKusick VA (1983) Cartilagehair hypoplasia in the Amish: Increased susceptibility to malignancy (abstract). Am J Hum Genet 35:89AGoogle Scholar
  7. 7.
    Harris RE, Baehner RL, Gleiser S, Weaver DD, Hodes ME (1981) Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Am J Med Genet 8:291–297CrossRefPubMedGoogle Scholar
  8. 8.
    Hensley MF (1984) McKusick's dwarfism and resistant Hodgkin's disease (letter). J Am Osteopath Ass 84:159PubMedGoogle Scholar
  9. 9.
    Hong R, Ammann AJ, Huang S, Levy RL, Davenport G, Bach ML, Bach FH, Bortin MM, Kay HEM (1972) Cartilagehair hypoplasia: effect of thymus transplants. Clin Immunol Immunopathol 1:15–26CrossRefGoogle Scholar
  10. 10.
    Horton WA, Rimoin DL, Lachman RS, Skovby F, Hollister DW, Spranger J, Scott CI, Hall JG (1978) The phenotypic variability of diastrophic dysplasia. J Pediatr 93:609–613PubMedGoogle Scholar
  11. 11.
    Irwin GAL (1966) Cartilage-hair hypoplasia (CHH) Variant of familial metaphyseal dysostosis. Radiology 86:926–928PubMedGoogle Scholar
  12. 12.
    Kaitila I, Perheentupa J (1980) Cartilage-hair hypoplasia. In: Eriksson AW, Forsius H, Nevanlinna HR, Workman PL, Norio RK (eds) Population structure and genetic disorders. Academic Press, London, pp 588–591Google Scholar
  13. 13.
    Le Merrer M, Briard ML, Chauvet ML, Maroteaux P (1991) Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease. Ann Pédiatr (Paris) 38:27–30Google Scholar
  14. 14.
    Lischka A, Frisch H, Weissenbacher G (1984) Radiologische Veränderungen bei metaphysärer Chondrodystrophie Typ McKusick (Knorpel-Haar-Hypoplasie). Monatsschr Kinderheilkd 132:550–553PubMedGoogle Scholar
  15. 15.
    Lux SE, Johnston RB, August CS, Say B, Penchaszadeh VB, Rosen FS, McKusick VA (1970) Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med 282:231–236PubMedGoogle Scholar
  16. 16.
    Mäkitie O (1992) Cartilage-hair hypoplasia in Finland-epidemiologic and genetic aspects in 107 patients. J Med Genet (in press)Google Scholar
  17. 17.
    Mäkitie O, Perheentupa J, Kaitila I (1992) Growth in cartilage-hair hypoplasia. Pediatr Res 31:176–180PubMedGoogle Scholar
  18. 18.
    Mäkitie O, Rajantie J, Kaitila I (1992) Anemia and macrocytosis, unrecognized features of cartilage-hair hypoplasia. Acta Paediatr (in press)Google Scholar
  19. 19.
    Marttinen E (1983) The growth of hand bones in relation to some body dimensions in normal children and in certain forms of short stature. Thesis, University of HelsinkiGoogle Scholar
  20. 20.
    McKusick VA (1964) Metaphyseal dysostosis and thin hair: a “new” recessively inherited syndrome? Lancet I:832–833CrossRefGoogle Scholar
  21. 21.
    McKusick VA (1974) Homocystinuria. In: McKusick VA (ed) Heritable disorders of connective tissue. CV Mosby Company, St Louis, pp 224–281Google Scholar
  22. 22.
    McKusick VA, Eldrige R, Hostetler JA, Ruangwit U, Egeland JA (1965) Dwarfism in the Amish II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 116:285–326PubMedGoogle Scholar
  23. 23.
    Mitus A, Holloway A, Evans AE, Enders JF (1962) Attenuated measles vaccine in children with acute leukemia. Am J Dis Child 103:243–248Google Scholar
  24. 24.
    Pierce GF, Polmar SH (1982) Lymphocyte dysfunction in cartilage-hair hypoplasia: Evidence for an intrinsic defect in cellular proliferation. J Immunol 129:570–575PubMedGoogle Scholar
  25. 25.
    Pierce GF, Brovall C, Schacter BZ, Polmar SH (1983) Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia. J Clin Invest 71:1737–1743PubMedGoogle Scholar
  26. 26.
    Pierce GF, Polmar SH, Schacter BZ, Brovall C, Hornick DL, Sorensen RU (1986) Natural cytotoxity in immunodeficiency diseases: preservation of natural killer activity and the in vivo appearance of radioresistant killing. Hum Immunol 15:85–96CrossRefPubMedGoogle Scholar
  27. 27.
    Pihkala J, Hakala T, Voutilainen P, Raivio K (1989) New Finnish standards for intrauterine growth (in Finnish). Duodecim 105: 1540–1546PubMedGoogle Scholar
  28. 28.
    Polmar SH, Pierce GF (1986) Cartilage hair hypoplasia: Immunological aspects and their clinical implications. Clin Immunol Immunopath 40:87–93CrossRefGoogle Scholar
  29. 29.
    Ranki A, Perheentupa J, Andersson LC, Häyry P (1978) In vitro T- and B-cell reactivity in cartilage hair hypoplasia. Clin Exp Immunol 32:352–360PubMedGoogle Scholar
  30. 30.
    Riker JB, Brandt CD, Chandra R, Arrobio JO, Nakano JH (1971) Vaccine-associated poliomyelitis in a child with thymic abnormality. Pediatrics 48:923–929PubMedGoogle Scholar
  31. 31.
    Roberts MA, Arnold RM (1984) Hodgkin's lymphoma in a child with cartilage-hair hypoplasia (case report). Milit Med 149:280–281Google Scholar
  32. 32.
    Roberts PAL, Mann TP, Rubin J (1969) Hirschsprung's disease associated with a variant form of achondroplasia, in sister and brother (case report). Proc R Soc Med 62:329PubMedGoogle Scholar
  33. 33.
    Saulsbury FT, Winkelstein JA, Davis LE, Hsu SH, D'Souza BJ, Gutcher GR, Butler IJ (1975) Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia. J Pediatr 86:868–872PubMedGoogle Scholar
  34. 34.
    Savage MO (1972) Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia (case report). Proc R Soc Med 65:727PubMedGoogle Scholar
  35. 35.
    Sorva R, Lankinen S, Tolppanen EM, Perheentupa J (1990) Variation of growth in height and weight of children. II After infancy. Acta Paediatr Scand 79:498–506PubMedGoogle Scholar
  36. 36.
    Trojak JE, Polmar SH, Winkelstein JA, Hsu S, Francomano C, Pierce GF, Scillian JJ, Gale AN, McKusick VA (1981) Immunologic studies of cartilage-hair hypoplasia in the Amish. Johns Hopkins Med J 148:157–164PubMedGoogle Scholar
  37. 37.
    Turnpenny PD, Thwaites RJ, Boulos FN (1991) Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. J Med Genet 28:27–33PubMedGoogle Scholar
  38. 38.
    Verloes A, Pierad GE, Le Merrer M, Maroteaux P (1990) Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. J Med Genet 27:693–696PubMedGoogle Scholar
  39. 39.
    Virolainen M, Savilahti E, Kaitila I, Perheentupa J (1978) Cellular and humoral immunity in cartilage-hair hypoplasia. Pediatr Res 12:961–966PubMedGoogle Scholar
  40. 40.
    Wilson WG, Aylsworth AS, Folds JD, Whisnant JK (1978) Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs. Birth Defects 14(6A):117–129PubMedGoogle Scholar
  41. 41.
    Wood DJ, David TJ, Chrystie LL, Totterdell B (1988) Chronic enteric virus infection in two T-cell immunodeficient children. J Med Virol 24:435–444PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • O. Mäkitie
    • 1
  • I. Kaitila
    • 1
    • 2
  1. 1.Department of Medical GeneticsUniversity of HelsinkiHelsinkiFinland
  2. 2.Department of Children's HospitalUniversity of HelsinkiHelsinkiFinland

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