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Equine veterinary journal2008; 40(3); 282-287; doi: 10.2746/042516408X278201

Phenotypic diagnosis of dwarfism in six Friesian horses.

Abstract: An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses. Within the Friesian horse breed, congenital dwarfism has been recognised for many years, but no detailed report exists on its phenotype. The most salient feature of the dwarf syndrome is the physeal growth retardation in both limbs and ribs. Affected animals have approximately 25% shorter fore- and hindlimbs and approximately 50% reduced bodyweight. Postnatal growth is still possible in these animals, albeit at a slower rate: the head and back grow faster than the limbs and ribs leading to the characteristic disproportional growth disturbance. Thus, adult dwarfs exhibit a normal, but a relatively larger head conformation, a broader chest with narrowing at the costochondral junction, a disproportionally long back, abnormally short limbs, hyperextension of the fetlocks and narrow long-toed hooves. Furthermore, a dysplastic metaphysis of the distal metacarpus and metatarsus is radiographically evident. Microscopic analysis of the growth plates at the costochondral junction shows an irregular transition from cartilage to bone, and thickening and disturbed formation of chondrocyte columns, which is similar to findings in osteochondrodysplasia.
Publication Date: 2008-02-13 PubMed ID: 18267883DOI: 10.2746/042516408X278201Google Scholar: Lookup
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Summary

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This research study investigates and documents the specifics surrounding cases of dwarfism in six Friesian horses, a condition that, while noted in this breed, has not been comprehensively described before. The main characteristics described are restricted growth in various body parts, specifically limbs and ribs, and certain abnormal physical traits.

Phenotypic Diagnosis of Dwarfism

The major feature of this dwarf syndrome, as noted by researchers, is physeal growth retardation. This is particularly observable in the limbs and ribs of the affected horses. Key characteristics of the dwarfism as observed are:

  • Approximately 25% shorter fore- and hindlimbs
  • Approximately 50% reduced bodyweight

Postranal Growth in Dwarf Horses

Postnatal growth, although at a slower rate, is still observed in affected horses. Some parts of the horse’s body such as the head and back, grow at a relatively faster pace than the limbs and ribs. This results in a disproportion in the growth and contributes to the characteristic appearance of the horse. Some of these disproportionate features observed are:

  • A relatively larger head conformation
  • A broader chest with narrowing at the costochondral junction
  • A disproportionally long back
  • Abnormally short limbs
  • Hyperextension of fetlocks
  • Narrow long-toed hooves

Radiographic and Microscopic Findings

Radiographic examination exposes a dysplastic metaphysis of the distal metacarpus and metatarsus, essentially abnormal development in the end parts of these bones. Microscopic inspection of the growth plates at the costochondral junction, a part of the rib, shows irregular transition from cartilage to bone along with thickening and disorganized formation of chondrocyte columns, which are cellular components of cartilage. These observations resemble the findings in osteochondrodysplasia, a group of disorders characterized by abnormal growth and development of bone and cartilage.

Cite This Article

APA
Back W, van der Lugt JJ, Nikkels PG, van den Belt AJ, van der Kolk JH, Stout TA. (2008). Phenotypic diagnosis of dwarfism in six Friesian horses. Equine Vet J, 40(3), 282-287. https://doi.org/10.2746/042516408X278201

Publication

ISSN: 0425-1644
NlmUniqueID: 0173320
Country: United States
Language: English
Volume: 40
Issue: 3
Pages: 282-287

Researcher Affiliations

Back, W
  • Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 114, NL-3584 CM Utrecht, The Netherlands.
van der Lugt, J J
    Nikkels, P G J
      van den Belt, A J M
        van der Kolk, J H
          Stout, T A E

            MeSH Terms

            • Animals
            • Animals, Newborn
            • Dwarfism / diagnosis
            • Dwarfism / pathology
            • Dwarfism / veterinary
            • Female
            • Horse Diseases / diagnosis
            • Horse Diseases / pathology
            • Horses / anatomy & histology
            • Male
            • Phenotype

            Citations

            This article has been cited 3 times.
            1. Leegwater PA, Vos-Loohuis M, Ducro BJ, Boegheim IJ, van Steenbeek FG, Nijman IJ, Monroe GR, Bastiaansen JW, Dibbits BW, van de Goor LH, Hellinga I, Back W, Schurink A. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. BMC Genomics 2016 Oct 28;17(1):839.
              doi: 10.1186/s12864-016-3186-0pubmed: 27793082google scholar: lookup
            2. Rafati N, Andersson LS, Mikko S, Feng C, Raudsepp T, Pettersson J, Janecka J, Wattle O, Ameur A, Thyreen G, Eberth J, Huddleston J, Malig M, Bailey E, Eichler EE, Dalin G, Chowdary B, Andersson L, Lindgren G, Rubin CJ. Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies. G3 (Bethesda) 2016 Jul 7;6(7):2213-23.
              doi: 10.1534/g3.116.029645pubmed: 27207956google scholar: lookup
            3. de Silva S, Weerathunga US, Pushpakumara TV. Morphometrics and behavior of a wild Asian elephant exhibiting disproportionate dwarfism. BMC Res Notes 2014 Dec 19;7:933.
              doi: 10.1186/1756-0500-7-933pubmed: 25522959google scholar: lookup