Spondylo-carpo-tarsal synostosis

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

The spondylo-carpal-tarsal synostosis or congenital Synspondylismus is a very rare congenital malformation with mergers of vertebral bodies and of metacarpal and metatarsal .

distribution

The frequency is given as less than 1 in 1,000,000, the inheritance is partly autosomal - recessive . Families with an autosomal dominant inheritance have also been described.

root cause

The recessive inheritance of the disease is based on mutations in the FLNB gene at location 3p14.3, which codes for filamin B.

Clinic and diagnostics

Diagnostic criteria are:

Short stature from the trunk
Carpal Coalition
Tarsal coalition
Absent segmentation of the vertebral bodies typically without rib malformations

Differential diagnosis

Other forms of spondylocostal dysostosis , in which rib changes occur regularly, must be distinguished.

history

The first description comes from the year 1992 by the Australian human geneticist C. R. Wiles and colleagues under the name "Congenital synspondylism".

Individual evidence

↑ ^a ^b Spondylo-carpo-tarsal synostosis. In: Orphanet (Rare Disease Database).
^ Spondylo-carpo-tarsal synostosis. In: Online Mendelian Inheritance in Man . (English)
↑ C. Steiner, N. Ehtesham, KD Taylor, E. Sebald, R. Cantor, LM King, X. Guo, T. Hang, MS Hu, JR Cui, B. Friedman, D. Norato, J. Allanson, C. Honeywell, G. Mettler, F. Field, R. Lachman, DH Cohn, D. Krakow: A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. In: Journal of medical genetics. Vol. 41, No. 4, April 2004, ISSN 1468-6244 , pp. 266-269, PMID 15060099 , PMC 1735744 (free full text).
↑ A. Singh, S. Kapoor, G. Pradhan: Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence. In: Journal of clinical and diagnostic research: JCDR. Vol. 7, No. 9, September 2013, ISSN 2249-782X , pp. 2031-2032, doi: 10.7860 / JCDR / 2013 / 5605.3398 , PMID 24179936 , PMC 3809675 (free full text).
^ CR Wiles, TF Taylor, DO Sillence: Congenital synspondylism. In: American journal of medical genetics. Vol. 42, No. 3, February 1992, ISSN 0148-7299 , pp. 288-295, doi: 10.1002 / ajmg.1320420305 , PMID 1536163 .

[Orpha-1] Spondylo-carpo-tarsal synostosis. In: Orphanet (Rare Disease Database).

[2] Spondylo-carpo-tarsal synostosis. In: Online Mendelian Inheritance in Man . (English)

[3] C. Steiner, N. Ehtesham, KD Taylor, E. Sebald, R. Cantor, LM King, X. Guo, T. Hang, MS Hu, JR Cui, B. Friedman, D. Norato, J. Allanson, C. Honeywell, G. Mettler, F. Field, R. Lachman, DH Cohn, D. Krakow: A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. In: Journal of medical genetics. Vol. 41, No. 4, April 2004, ISSN 1468-6244 , pp. 266-269, PMID 15060099 , PMC 1735744 (free full text).

[4] A. Singh, S. Kapoor, G. Pradhan: Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence. In: Journal of clinical and diagnostic research: JCDR. Vol. 7, No. 9, September 2013, ISSN 2249-782X , pp. 2031-2032, doi: 10.7860 / JCDR / 2013 / 5605.3398 , PMID 24179936 , PMC 3809675 (free full text).

[5] CR Wiles, TF Taylor, DO Sillence: Congenital synspondylism. In: American journal of medical genetics. Vol. 42, No. 3, February 1992, ISSN 0148-7299 , pp. 288-295, doi: 10.1002 / ajmg.1320420305 , PMID 1536163 .