OMIA:001511-9913 : Contractural arachnodactyly (Fawn calf syndrome) in Bos taurus (taurine cattle)

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609199 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Species-specific name: Fawn calf syndrome

Mapping: In a conference paper, Tammen et al. (2011) reported that CA was mapped to bovine chromosome 21 in a target region of ~3.4 Mb.

Molecular basis: In a conference paper, Denholm et al. (2014) reported that "The causal mutation in CA was identified as a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene on bovine chromosome 21."

Clinical features: A summary of current knowledge of this disorder in Australia is provided by Denholm (2010). Information on the disorder in the USA is available from In a corrigendum to Windsor et al. (2011), Windsor et al. (2012) stated "Readers should note that although contractural arachnodactyly or fawn calf syndrome has been included in the table of neurogenetic disorders of cattle, current evidence (as explained in the text on arthrogryposis) suggests that it is most probably not a primary neuropathy but a myopathy. It was included in the table as it emerged as a differential diagnosis for arthrogryposis in neonatal Angus and Murray Grey calves and their crosses."

Genetic testing: A DNA test has been developed by Dr Jon Beever, Dept of Animal Sciences, University of Illinois.

Breed: Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ADAMTSL3 ADAMTS like 3 Bos taurus 21 NC_037348.1 (24519651..24111437) ADAMTSL3 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
935 Angus (Cattle) Contractual arachnodactyly (Fawn calf syndrome) ADAMTSL3 deletion, gross (>20) Naturally occurring variant 21 "a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene" 2014 Reference not in PubMed; see OMIA 001511-9913 for reference details

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001511-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2014 Denholm, L.J., Beever, J.E., Marron, B.M., Walker, K.H., Healy, P.J., Dennis, J.A., O'Rourke, B.A., Teseling, T.F. :
Contractural Arachnodactyly (CA): A congenital recessive marfanoid syndrome with reduced elasticity of muscle connective tissue resulting from a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene in Angus and Angus influenced cattle breeds. Proc. XXVIII World Buiatrics Congress, Cairns Australia :Abstract 0305, 2014.
2012 Windsor, P., Kessell, A., Finnie, J. :
Corrigendum to: Neurological diseases of ruminant livestock in Australia. V: congenital neurogenetic disorders of cattle Australian Veterinary Journal 90:28 only, 2012.
2011 Tammen, I., Khatkar, M.S., Cavanagh, J.A.L., Windsor, P.A., Thomson, P.C., Raadsma, H.W. :
Mapping of congenital contractural arachnodactyly in cattle. Proceedings of the Association for the Advancement of Animal Breeding and Genetics 19:215-218, 2011.
Windsor, P., Kessell, A., Finnie, J. :
Neurological diseases of ruminant livestock in Australia. V: congenital neurogenetic disorders of cattle. Aust Vet J 89:394-401, 2011. Pubmed reference: 21933167. DOI: 10.1111/j.1751-0813.2011.00826.x.
2010 Denholm, L :
Congenital contractural arachnodactyly ("fawn calf syndrome") in Angus cattle , 2010.
2001 Windsor, PA, Tammen, I :
The Fawn Calf Syndrome: request for information. Journal of the Australian Association of Cattle Veterinarians 18:36, 2001.

Edit History

  • Created by Frank Nicholas on 30 Mar 2011
  • Changed by Frank Nicholas on 15 Aug 2012
  • Changed by Frank Nicholas on 09 Oct 2013
  • Changed by Frank Nicholas on 10 Sep 2014
  • Changed by Imke Tammen2 on 24 Mar 2017
  • Changed by Frank Nicholas on 21 Aug 2019
  • Changed by Imke Tammen2 on 17 Apr 2021
  • Changed by Imke Tammen2 on 19 Jun 2023