Spider lamb syndrome

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Spider lamb syndrome, also known as spider syndrome [1] and more formally as ovine hereditary chondrodysplasia, [2] is a homozygous recessive disorder affecting the growth of cartilage and bone in sheep. The name derives from the limbs of afflicted animals being thin, elongated, and "spider-like". [3]

Contents

It is a semilethal trait, [4] which is thought to have been first observed in the 1970s, [5] and is most common in sheep of the Suffolk and Hampshire breeds. [6] These are both black-faced breeds of sheep; the syndrome has never been detected in white-faced breeds. [7]

The syndrome was an economically significant issue for sheep breeders in the 1980s, [8] but with strict testing and breeding programs it has become less common. [8]

The mutation which causes spider lamb syndrome is found on ovine chromosome 6, [9] and involves the inactivation of fibroblast growth factor receptor 3. [10] It has been compared to dwarfism in beef cattle. [7]

Afflicted animals may be visibly deformed at birth and unable to stand, or seemingly normal for the first 4 to 6 weeks of their lives. [4]

Symptoms

Symptoms have been observed on fetal lambs as early as by the completion of the second gestational trimester. [11] Under normal production circumstances, the lambs usually do not survive past the neonatal period. [12] For this reason, the disease is considered semi-lethal. [4] The disease typically affects the musculo-skeletal system. [12] The clinical signs can include: skeletal abnormalities, twisted or humped spines, facial defects, bent legs, abnormally long legs, flat ribs, and underdeveloped muscles. [4] Due to these symptoms, lambs cannot stand to nurse. [12]

Spider lamb syndrome is untreatable, and in almost all cases, the lambs must be euthanized. [11]

Causes

Spider lamb syndrome is caused by a mutation to the gene for fibroblast growth factor receptor 3 (FGFR3), on ovine chromosome 6. [12] FGFR3 is in the tyrosine kinase receptor family and its function is to restrict the proliferation of cartilage at the growth plates of the long bones: [12] regulating ossification (the conversion of cartilage into bone), limiting skeletal elongation, and thereby ensuring that the limbs are the right length. [12]

Related Research Articles

Achondroplasia is a genetic disorder with an autosomal dominant patten of inheritance whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of 131 centimetres for males and 123 centimetres (4 ft) for females. Other features can include an enlarged head and prominent forehead. Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes Short-limb skeletal dysplasia with severe combined immunodeficiency.

Chondrocyte Cell that makes up cartilage

Chondrocytes are the only cells found in healthy cartilage. They produce and maintain the cartilaginous matrix, which consists mainly of collagen and proteoglycans. Although the word chondroblast is commonly used to describe an immature chondrocyte, the term is imprecise, since the progenitor of chondrocytes can differentiate into various cell types, including osteoblasts.

Crouzon syndrome Genetic disorder of the skull and face

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.

Apert syndrome Congenital disorder of the skull and digits

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Thanatophoric dysplasia Severe form of genetic dwarfism that is usually lethal

Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.

Hypochondroplasia Medical condition

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.

Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.

Jackson–Weiss syndrome Medical condition

Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. This genetic disorder can also sometimes cause intellectual disability and crossed eyes. It was characterized in 1976.

Pfeiffer syndrome Genetic disorder of the skull

Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis) which affects the shape of the head and face. In addition, the syndrome includes abnormalities of the hands and feet.

The fibroblast growth factor receptors (FGFR) are, as their name implies, receptors that bind to members of the fibroblast growth factor (FGF) family of proteins. Some of these receptors are involved in pathological conditions. For example, a point mutation in FGFR3 can lead to achondroplasia.

Fibroblast growth factor receptor 2 Protein-coding gene in the species Homo sapiens

Fibroblast growth factor receptor 2 (FGFR2) also known as CD332 is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10. FGFR2 is a receptor for fibroblast growth factor.

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Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.

Fibroblast growth factor receptor 1 Protein-coding gene in the species Homo sapiens

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Fibroblast growth factor receptor 3 Gene involved in the most common form of dwarfism

Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene. FGFR3 has also been designated as CD333. The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys.

Fibroblast growth factor receptor 4 Protein-coding gene in the species Homo sapiens

Fibroblast growth factor receptor 4 is a protein that in humans is encoded by the FGFR4 gene. FGFR4 has also been designated as CD334.

FGF9

Glia-activating factor is a protein that in humans is encoded by the FGF9 gene.

FGF4 Fibroblast growth factor gene

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Severe achondroplasia with developmental delay and acanthosis nigricans Medical condition

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected by the disorder are severely short in height and commonly possess shorter arms and legs. In addition, the bones of the legs are often bowed and the affected have smaller chests with shorter rib bones, along with curved collarbones. Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs. Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. Seizures are also common due to structural abnormalities of the brain. Those affected may also suffer with apnea, the slowing or loss of breath for short periods of time.

References

  1. ↑ Hereditary chondrodysplasia ("spider syndrome") in a New Zealand Suffolk lamb of American origin., originally published in New Zealand veterinary journal, Volume 43, p.118-22 (1995); by West, DM; Burbidge, H M; Vermunt, J J; Arthur, D G; archived at the International Sheep Research Centre; retrieved July 19, 2012
  2. ↑ Developmental progression of the Spider Lamb Syndrome in Small Ruminant Research, Volume 18, Issue 2, Pages 179-184, October 1995, by A.M. Oberbauer, N.E. East, R. Pool, J.D. Rowe, and R.H. BonDurant
  3. ↑ Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ (2006). "A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome". Am J Hum Genet. 79 (5): 935–41. doi:10.1086/508433. PMC   1698566 . PMID   17033969.
  4. 1 2 3 4 Spider Lamb Syndrome: Introduction at UC Davis School of Veterinary Medicine; retrieved July 19, 2012
  5. ↑ Spider Lamb Syndrome - 1998 Sheep Day Report: The Test for Spider Lamb Syndrome Gene in Sheep at North Dakota State University; by Bert Moore, Wes Limesand and Paul Berg; publisher 1998; retrieved July 19, 2012
  6. ↑ Spider Lamb Syndrome, at the Merck Veterinary Manual; published 2011; retrieved July 19, 2012
  7. 1 2 Fitch, Gerald (March 2017). "Spider Syndrome" (PDF). Oklahoma Cooperative Extension Service.
  8. 1 2 "spider". ag.ansc.purdue.edu. Retrieved 2019-03-28.
  9. ↑ Localization of the locus causing Spider Lamb Syndrome to the distal end of ovine Chromosome 6, from Mammalian Genome 10, 35–38 (1999); by N.E. Cockett, T.L. Shay, J.E. Beever, D. Nielsen, J. Albretsen, M. Georges, K. Peterson, A. Stephens, W. Vernon, O. Timofeevskaia, S. South, J. Mork, A. Maciulis, T.D. Bunch; archived at the University of Liège; retrieved July 19, 2012
  10. ↑ Enhanced skeletal growth of sheep heterozygous for an inactivated fibroblast growth factor receptor 3, Journal of Animal Science, vol. 84 no. 11 2942-2949; by L. B. Smith, M. R. Dally, R. D. Sainz, K. L. Rodrigue and A. M. Oberbauer
  11. 1 2 Developmental progression of the Spider Lamb Syndrome, by A.M. Oberbauer, N.E. East, R. Pool, J.D. Rowe, and R.H. BonDurant; in Small Ruminant Research; Volume 18, Issue 2, October 1995, Pages 179-184
  12. 1 2 3 4 5 6 Beever, J. E.; Smit, M. A.; Meyers, S. N.; Hadfield, T. S.; Bottema, C.; Albretsen, J.; Cockett, N. E. (2006). "A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep". Animal Genetics. 37 (1): 66–71. doi:10.1111/j.1365-2052.2005.01398.x. ISSN   1365-2052. PMID   16441300.
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