Kleidocranial Dysplasia

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Classification according to ICD-10
Q74.0 Other congenital malformations of the upper extremity (s) and shoulder girdle
ICD-10 online (WHO version 2019)

The Cleidocranial dysplasia or Cleidocranial dysostosis , Latin dysplasia cleidocranialis or dysostosis cleidocranialis , is a very rare inherited disease with missing or underdeveloped clavicles , wide-open fontanelles and cranial sutures and dental changes. The simultaneous involvement of parts of the skull (desmocranium) and collarbone can be explained by the desmal ossification , which is the developmental disorder of these bones.

distribution

The frequency is given as 1–9 in 1,000,000, inheritance is autosomal dominant , but there is also a recessive hereditary form.

root cause

The disease is based on mutations in the RUNX2 gene at location 6p21.1.

Clinical manifestations

The clinical appearance is broad:

  • Kleidocranial dysplasia, classic form
  • Kleidocranial dysplasia, form frustration with only tooth changes
  • Kleidocranial dysplasia, form frustration with brachydactyly

Clinically common criteria are:

  • Hypoplasia, or the absence of the collarbones with narrow, drooping shoulders that can be brought together in front of the chest
  • later until the fontanelles and cranial sutures were not closed
  • Multiple surplus, mostly retained tooth systems ( real hyperdontia ), which can affect the chewing and closing abilities.

There can also be skeletal changes such as brachydactyly , short broad thumbs, short stature , scoliosis , genu valgum , coxa vara , dehiscent symphysis , scapula dysplasia .

diagnosis

The diagnosis comes from the clinic and is confirmed by the characteristic changes in the X-ray image :

  • Delayed ossification of the skull with very wide fontanelles remaining open until adulthood
  • Large skull with frontal protrusion, relatively small face
  • Narrow shoulders because of the lack of collarbones
  • Narrow thorax
  • very wide symphysis
  • Short middle phalanges of the little fingers
  • Delayed bone maturation
  • Coxa vara

Molecular genetic tests can confirm the diagnosis.

Differential diagnosis

The following are to be distinguished:

therapy

The clinical focus is on treating the tooth changes with the aim of achieving a good result both functionally and aesthetically. To do this, excess, missing and abnormal teeth are removed. Bone density should be monitored and osteoporosis prevention should be considered.

history

The disease was first described in 1898 by the French neurologist Pierre Marie and the French doctor Paul Sainton (1868–1958).

This is where the name Marie-Sainton Syndrome or Scheuthauer-Marie-Sainton Syndrome can be traced back.

See also

literature

  • U. Baumert, I. Golan, O. Driemel, TE Reichert, C. Reicheneder, D. Muessig, E. Rose: Dysostosis cleidocranialis. In: Oral and maxillofacial surgery: MKG , Volume 10, No. 6, November 2006, pp. 385–393. doi: 10.1007 / s10006-006-0029-1 . PMID 17051365 .
  • I. Golan, A. Waldeck, U. Baumert, J. Strutz, D. Müssig: Skull anomalies in dysostosis cleidocranialis. In: ENT , Vol. 52, No. 12, December 2004, pp. 1061-1066. doi: 10.1007 / s00106-004-1044-x . PMID 15597167 .
  • B. Schmidt-Rohlfing, C. Niedhart, EH Schwer, FU Niethard: The clavicle osteoarthritis in childhood: differential diagnosis, clinic, therapy and results. In: Journal of Orthopedics and their Frontier Areas , Volume 139, No. 5, 2001 Sep-Oct, pp. 447-451. doi: 10.1055 / s-2001-17989 . PMID 11605298 .

Individual evidence

  1. ↑ a b c d Kleidocranial Dysplasia. In: Orphanet (Rare Disease Database).
  2. ↑ Cleidcranial dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ Cleidcranial Dysplasia, Recessive Form.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Peter Gängler, Thomas Hoffmann, Brita Willershausen: Conservative Dentistry and Periodontology . Georg Thieme, 2010, ISBN 978-3-13-154073-7 , p. 62 ( google.com ).
  5. ↑ a b F. Hefti: Pediatric orthopedics in practice. Springer 1998, p. 661, ISBN 3-540-61480-X
  6. ↑ Who named it
  7. ^ P. Marie, P. Sainton: Dysostose cléido-crânienne héréditaire In: Rev. Neurol. , Volume 6, pp. 835, 1898
  8. ^ Foramina parietalia with dressocranial dysostosis. In: Orphanet (Rare Disease Database).
  9. ^ Parietal foramina with cleidocranial dysplasia.  In: Online Mendelian Inheritance in Man . (English)