Spondylocostal dysostosis

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Classification according to ICD-10
Q76.8 Other congenital malformations of the bony thorax
Q76.4 Other congenital malformations of the spine without scoliosis
ICD-10 online (WHO version 2019)

The spondylocostal dysostosis ( SCD ) is a congenital hereditary disease and includes Segmentation of the spine and ribs with varying degrees of constriction of the chest.

The synonyms are:

  • spondylothoracic dysostosis
  • costovertebral dysostosis
  • Lavy-Palmer-Merritt Syndrome
  • Jarcho Levin Syndrome
  • spondylocostal dysplasia

The first description was in 1938 by S. Jarcho , PM Levin . It was further described in 1966 by NW Lavy , CG Palmer and AD Merritt . and in 1969 by JE Moseley .

Subdivision

According to severity

The extent of the shortening of the thoracic spine and narrowing of the rib thorax is decisive for the course, the prognosis and the need for treatment. The following distinction can be derived from this:

  • spondylocostal dysostosis (SCD) or Jarcho-Levin syndrome with mild to moderate respiratory failure without restriction to certain ethnic groups and changes in the DLL3 gene
  • spondylothoracic dysostosis (STD) or Lavy-Moseley syndrome with more pronounced respiratory insufficiency, largely restricted to Puerto Rikaner and changes in the MESP2 gene

According to genetic defect

According to the underlying genetic changes, there is a division into the following types:

  • SCD 1 : Synonyms are: Jarcho-Levin syndrome , spondylothoracic dysplasia, costovertebral dysplasia, spondylothoracic dysostosis. The inheritance is autosomal recessive, there are mutations in the DLL3 gene at location 19q13.2
  • SCD 2 : The inheritance is autosomal recessive, there are mutations in the MESP2 gene at location 15q26.1.
  • SCD 3 : The inheritance is autosomal recessive, there are mutations in the LFNG gene at location 7p22.3.
  • SCD 4 : The inheritance is autosomal recessive, there are mutations in the HES7 gene at location 17p13.1.
  • SCD 5 : The inheritance is autosomal dominant, there are mutations in the GDF6 gene at location 8q22.1. This form is very rare. The focus is on segmentation defects of the vertebrae with an often reduced number of ribs.

Other forms

Spondylocostal dysostoses can occur together with other malformations:

  • spondylocostal dysostosis with anal and urogenital malformations

Synonyms are: Casamassima-Mortin-Nance syndrome (CMN) as described by AC Casamassima et al. In 1981 7246601 This syndrome is characterized by the common occurrence of spondylo-costal dysostosis and anal and urogenital malformations (anal atresia, agenesis of the external and internal Genitals). So far only 4 cases have been described. Autosomal recessive inheritance has been suspected.

  • spondylocostal dysostosis with hypospadias and intelligence defects

This could be a special form of the SCD 1.

Clinical manifestations

Criteria are:

  • Complex segmentation disorder with spinal shortening and rib defects with disproportionate short stature
  • Prominent forehead, long philtrum , thin lips, expansive occiput

Finger malformations such as syndactyly , camptodactyly or abdominal wall defects can also occur. The function of the lungs is restricted by the limited space, which can lead to shortness of breath and repeated respiratory infections.

diagnosis

The diagnosis is based on the clinical changes and is confirmed by sonography and X-ray examinations . A diagnosis in the womb is possible using ultrasound of the malformation.

therapy

A newer treatment option has arisen with the vertical expandable prosthetic titanium ribs ( VEPTR ) according to Campbell, in which the rib thorax can be surgically stretched.

forecast

The extent of respiratory insufficiency and the complications associated with it limit the prospects for life, so that around half of the children affected die early.

literature

Individual evidence

  1. ↑ a b 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. ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, ISBN 3-540-61480-X .
  3. ↑ S. Jarcho, PM Levin: Hereditary malformation of the vertebral bodies. In: Bulletin of the Johns Hopkins Hospital , 1938, Vol. 62, pp. 216-226.
  4. ^ NW Lavy, CG Palmer, AD Merritt: A syndrome of bizarre vertebral anomalies. In: The Journal of pediatrics. Vol. 69, No. 6, December 1966, ISSN  0022-3476 , pp. 1121-1125, PMID 5953839 .
  5. ↑ JE Moseley, RJ Bonforte: Spondylothoracic dysplasia-a syndrome of congenital anomalies. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 106, No. 1, May 1969, ISSN  0002-9580 , pp. 166-169, PMID 5769299 .
  6. ↑ WE Berdon, BS Lampl, AS Cornier, N. Ramirez, PD Turnpenny, MG Vitale, LP Seimon, RA Cowles: Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). In: Pediatric radiology. Vol. 41, No. 3, March 2011, ISSN  1432-1998 , pp. 384-388, doi: 10.1007 / s00247-010-1928-8 , PMID 21174082 .
  7. ↑ SCD01.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ a b c Spondylocostal dysostosis. In: Orphanet (Rare Disease Database).
  9. ↑ SCD02.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ SCD03.  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ SCD04.  In: Online Mendelian Inheritance in Man . (English)
  12. ↑ SCD05.  In: Online Mendelian Inheritance in Man . (English)
  13. ↑ Spondylocostal dysostosis. In: Orphanet (Rare Disease Database).
  14. ↑ AC Casamassima, CC Morton, WE Nance, M. Kodroff, R. Caldwell, T. Kelly, B. Wolf: Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. In: American journal of medical genetics. Vol. 8, No. 1, 1981, ISSN  0148-7299 , pp. 117-127, doi: 10.1002 / ajmg.1320080114 , PMID 7246601 .
  15. ↑ Spondylocostal dysostosis.  In: Online Mendelian Inheritance in Man . (English)
  16. ↑ Spondylocostal dysostosis. In: Orphanet (Rare Disease Database).
  17. ^ P. Aurora, CE Wallis, RM Winter: The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. In: Clinical dysmorphology. Vol. 5, No. 2, April 1996, ISSN  0962-8827 , pp. 165-169, PMID 8723567 .
  18. ↑ GY Wong, SF Wong, WP Chan, WF Ng: Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. In: Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 27, No. 5, May 2006, ISSN  0960-7692 , pp. 580-582, doi: 10.1002 / uog.2769 , PMID 16619382 . (Review)
  19. ^ AK Hell, RM Campbell, F. Hefti: New therapy concept for children with thoracic insufficiency syndrome due to spinal malformations In: Klinische Pädiatrie. Volume 217, Number 5, 2005 Sep-Oct, ISSN  0300-8630 , pp. 268-273, doi: 10.1055 / s-2004-832483 , PMID 16167273 .
  20. ↑ M. Lacher, H.-G. Dietz: VEPTR (Vertical Expandible Prosthetic Titanium Rib) treatment for Jeune syndrome . In: European Journal of Pediatric Surgery . tape 21 , no. 2 , March 2011, ISSN  1439-359X , p. 138-139 , doi : 10.1055 / s-0030-1267222 , PMID 21053163 .
  21. ↑ N. Ramirez, JM Flynn, JB Emans, R. Betz, JT Smith, N. Price, T. St Hilaire, AP Joshi, RM Campbell: Vertical expandable prosthetic titanium rib as treatment of thoracic insufficiency syndrome in spondylocostal dysplasia. In: Journal of pediatric orthopedics. Vol. 30, No. 6, September 2010, ISSN  1539-2570 , pp. 521-526, doi: 10.1097 / BPO.0b013e3181e78e6c , PMID 20733413 .
  22. ↑ AS Cornier, N. Ramírez, S. Arroyo, J. Acevedo, L. García, S. Carlo, B. Korf: Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. In: American journal of medical genetics. Part A. Vol. 128A, No. 2, July 2004, ISSN  1552-4825 , pp. 120-126, doi: 10.1002 / ajmg.a.30011 , PMID 15214000 .