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Classification according to ICD-10
Q76.3 Congenital scoliosis caused by congenital bone malformation
ICD-10 online (WHO version 2019)

The Brachyolmia (from ancient Greek βραχύς brachys , short 'and ὄλμος Olmos , roller or hull) is a group of autosomal recessive or dominant hereditary diseases , skeletal dysplasias with exclusive involvement of the spine .

Common to all forms is the onset of abnormalities in childhood with short stature mainly affecting the trunk .

Synonyms are: brachyolmia, recessive type ; Brachyolmia type Hoback ; french dysplasia spondylarie pure; Dreyfus Syndrome (obsolete)

The name refers to the first author of the first description from 1961 by the Norwegian pediatrician A. Hobaek . The term "brachyolmia" was coined in 1975 by the pediatrician from Lille G. Fontaine and colleagues.


The classification is mainly based on clinical criteria:

  • Type IA ( Hobaek type ; BCYM1a; actual brachyolmia; spondylodysplasia with pure brachyolmia), autosomal recessive, manifestation in late childhood, short stature limited to the trunk
  • Type IB ( type Toledo ; BCYM1b; spondyloepiphyseal dysplasia type Toledo; PAPS-chondroitin-sulfate-sulfotransferase deficiency), autosomal recessive, skeletal and vertebral changes probably identical to type Hobaek, additional increased excretion of glycosaminoglycans from and peripheral corneal opacity
  • Type II ( Maroteaux type ; BCYM2), autosomal recessive, manifestation in childhood, irregular and narrowed intervertebral spaces , marked deformation of the vertebral bodies
  • Type III ( autosomal dominant ; brachyrachia; BCYM3), autosomal dominant with mutations in the TRPV4 gene at location 12q24.11, symptoms less severe, mostly scoliosis or kyphosis
  • Type IV ( Pakistani type ; spondylodysplasia with premature pubarche; BCYM4) with mild epi- and metaphyseal changes, with mutations in the PAPSS2 gene at location 10q23.2-q23.3

Clinical manifestations

Clinical criteria are:

  • Moderately short-hulled stature
  • Manifestation in late childhood
  • Generalized platyspondyly , irregular borders of the vertebral bodies
  • Skeleton otherwise normal


Genetic counseling can only relate to inheritance. A prenatal diagnosis is not possible and a specific therapy is not known.

Brachyolmia can also occur in the context of syndromes , such as brachyolmia and amelogenesis imperfecta .

Individual evidence

  1. a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. a b Brachyolmia. In: Orphanet (Rare Disease Database).
  3. A. Hobaek: Problems of Hereditary Chondrodysplasias. Oslo University Press, 1961, pp. 82-95.
  4. ^ G. Fontaine, P. Maroteaux, JP Farriaux, M. Bosquet: La dysplasie spondylaire pure ou brachyolmie. In: Archives françaises de pédiatrie. Vol. 32, No. 8, October 1975, pp. 695-708, PMID 816327 .
  5. BCYM1A.  In: Online Mendelian Inheritance in Man . (English)
  6. BCYM1B.  In: Online Mendelian Inheritance in Man . (English)
  7. BCYM2.  In: Online Mendelian Inheritance in Man . (English)
  8. BCYM3.  In: Online Mendelian Inheritance in Man . (English)
  9. BCYM4.  In: Online Mendelian Inheritance in Man . (English)

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