Conradi-Hünermann syndrome

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Classification according to ICD-10
Q77.3 Chondrodysplasia punctate syndromes
ICD-10 online (WHO version 2019)

The Conradi-Hünermann syndrome , also Conradi-Hünermann-Happle syndrome or just Happle syndrome , ( Latin: Chondrodystrophia congenita calcificans or Chondrodysplasia foaetalis calcarea ), is a rare congenital disease and belongs to the Chondrodysplasia punctata syndromes. The distinction is made according to the inheritance and the underlying genetic defect: In Conradi-Hünermann syndrome, a defect in the EBP gene (enzyme in cholesterol metabolism) is inherited in an X-linked dominant manner.

It is a skeletal dysplasia with short stature , asymmetrical shortening of the limbs, especially the upper arms and thighs, and (kypho) scoliosis. The skin, hair and eyes are also affected.

The disease is named after the German paediatricians Erich Conradi and Carl Hünermann and after the German doctor Rudolf Happle.

The inheritance is x-linked dominant, the disease only occurs in girls.

The incidence of the disease is estimated at 1 in 100,000 newborns. The cause is mutations in the EBP gene in the chromosome region Xp11.23-p11.22,


The severity of the syndrome can be very different.

Clinical criteria are:


The disease can already be detected in the womb.

The x-ray shows

  • In the first years of life, asymmetrically distributed punctiform, “stippled” or “stippled” calcifications in the epiphyses of the long bones
  • vertebral bodies decreased in height
  • rhizomelic shortening of the limbs.

Differential diagnosis

The other forms of chondrodysplasia punctata and other causes of spotted epiphyses are to be distinguished .


The cause itself cannot be treated. The skin changes can be tackled orthopedically with ointments, the curvature of the spine with corset treatment and a leg length difference,

Individual evidence

  1. a b c Conradi-Hünermann syndrome. In: Orphanet (Rare Disease Database).
  2. ^ E. Conradi: Premature occurrence of boiling and peculiar calcification nuclei in chondrodystrophia fetalis hypoplastica: Histological and X-ray examinations. In: Yearbook for Pediatrics. 1914, Volume 80, pp. 86-97.
  3. ^ C. Hünermann: Chondrodystrophia calcificans congenita as an abortive form of chondrodystrophy. In: Journal of Pediatrics. 1931, vol. 51, pp. 1-19.
  4. ^ R. Happle: X-linked dominant chondrodysplasia punctata. In: Human Genetics. 1979, volume 53, p. 65.
  5. R. Happle, H. Hästner: X-linked dominant chondrodysplasia punctata - a osteokutanes syndrome. In: dermatologist. 1979, Volume 30, pp. 590-594.
  6. a b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .
  7. a b Conradi-Hünermann syndrome.  In: Online Mendelian Inheritance in Man . (English)
  8. ^ WB Hyndman, DS Alexander, KW Mackie: Chondrodystrophia calcificans congenita (the conradi-hunermann syndrome). Report of a case recognized antenatally. In: Clinical pediatrics. Volume 15, Number 4, April 1976, pp. 311-321, ISSN  0009-9228 . PMID 1253511 .
  9. F. Hefti: Pediatric Orthopedics in Practice . Springer, 1998, ISBN 3-540-61480-X , p. 660.


  • JW Spranger: Bone Dysplasias. Urban & Fischer, 2002, ISBN 3-437-21430-6 .
  • R. Hartman, V. Molho-Pessach, J. Schaffer: Conradi-Hünermann-Happle syndrome. In: Dermatology Online Journal. 16 (11), p. 4.
  • J. Bergstedt, KH Karlen: [Chondrodystrophia calcificans congenita]. In: Monthly for Pediatrics. Volume 102, Number 7, July 1954, pp. 347-349, PMID 13203431 .

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