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OMIA:000299-9913 : Dwarfism, generic in Bos taurus (taurine cattle)

In other species: chicken , white-tufted-ear marmoset , dog , domestic cat , Asiatic elephant , domestic horse , pig , red deer , Northern giraffe , indicine cattle (zebu) , goat , sheep , rabbit , callipterus cichlid , Angolan giraffe

Categories: Skeleton phene (incl. short stature & teeth) , Growth / size / body region phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600768 (gene) , 600509 (gene)

Single-gene trait/disorder: unknown

Disease-related: yes

Species summary: See also other entries for dwarfism in cattle, e.g. OMIA:002596-9913 Dwarfism, ANKRD28-related; OMIA:001985-9913 Dwarfism, Fleckvieh; OMIA:001473-9913 Dwarfism, growth-hormone deficiency; OMIA:000308-9913 Dwarfism, proportionate; OMIA:001271-9913 Dwarfism, ACAN-related; OMIA:001686-9913 Dwarfism, proportionate, with inflammatory lesions; OMIA:001294-9913 Dwarfism, growth-hormone-receptor deficiency; OMIA:001485-9913 Dwarfism, PRKG2-related; OMIA:001659-9913 Dwarfism, dominant; OMIA:000311-9913 Dwarfism, stumpy; OMIA:000310-9913 Dwarfism, snorter; OMIA:001323-9913 Dwarfism, GHR-related (Laron); OMIA:000570-9913 Joint laxity and dwarfism, congenital.

Molecular basis: Jacinto et al. (2025) investigated multiple skeletal inherited disorders in cattle. Using a whole genome sequencing based approach multiple likely causal variants were identified. However, for two of the cases with primoridal proportionate dwarfism (in a Simmental and Holstein Friesian animal each) no likely causal variants were identified. In a third animal, a Simmental heifer with primoridal proportionate dwarfism "a heterozygous uncertain significance missense variant in exon 7 of PTPN9 has been identified and exchanges the encoded amino acid of PTPN9 at position 276, located in the protein-tyrosine phosphatase region (Chr21:g.33356490G > A; c.826G > A; p.Ala276Thr). The variant could be a de novo mutation, but the lack of parental DNA did not allow us to investigate this further." A fourth case was a Limousin x Brown Swiss crossbred calf with primordial proportionate dwarfism for which "a heterozygous likely pathogenic missense variant in exon 24 of ABCC8 was identified. This candidate variant of uncertain significance leads to an amino acid [change] in the ATP-binding cassette transporter C region of ABCC8 (Chr15:g.35095352A > G; c.2875A > G; p.Met959Val). This could be a de novo mutation but lacking parental DNA we were unable to prove this."

Breeds: Brown Swiss (Cattle) (VBO_0000166), Holstein Friesian (Cattle) (VBO_0000239), Limousin (Cattle) (VBO_0000274), Simmental (Cattle) (VBO_0000380).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:000299-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

2025 Jacinto, J., Letko, A., Gentile, A., Otter, A., Floyd, T., Collins, R., Richey, M., Carty, H., Scholes, S., Jones, A., Fuller, H., Häfliger, I.M., Strugnell, B., Studer, E., Benazzi, C., Bolcato, M., Starič, J., Diana, A., Weber, J., Freick, M., Lühken, G., Tammen, I., Kraft, D.C.E., Lindgren, C.M., Sickinger, M., Soto, S., O'Rourke, B.A., Agerholm, J.S., Drögemüller, C. :
Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. Genet Sel Evol 57:51, 2025. Pubmed reference: 40999323. DOI: 10.1186/s12711-025-01002-z.
2024 Mee, J.F., Murphy, D., Curran, M. :
Bovine congenital defects recorded by veterinary practitioners. Reprod Domest Anim 59:e14501, 2024. Pubmed reference: 37975255. DOI: 10.1111/rda.14501.
Schaeffer, D.J., Villar, D. :
Evidence for and against manganese deficiency as causal for congenital joint deficiency disease or death in fetal and neonatal cattle. J Vet Diagn Invest 36:827-831, 2024. Pubmed reference: 38835276. DOI: 10.1177/10406387241257672.
1996 Deinhofer, M., Majemnik, C. :
Insulin-like-growth-factor-i and insulin-like-growth-factor binding-protein-3 in a bull with growth retardation [German] Deutsche Tierarztliche Wochenschrift 103:130-131, 1996. Pubmed reference: 8925774.
1995 Harper, P.A.W., Latter, M.R., Wilkins, J.F. :
Hydrops foetalis in dwarf calves associated with twinning Australian Veterinary Journal 72:236-238, 1995. Pubmed reference: 8526821.
Mee, J.F. :
Nonhereditary Disproportionate Dwarfism in a Beef Herd: Clinical and Pathological Features Irish Veterinary Journal 48:93-105, 1995.
1994 Peet, R.L., Creeper, J. :
Congenital Joint Laxity and Dwarfism in Calves Australian Veterinary Journal 71:58, 1994. Pubmed reference: 8166618.
1993 Eisen, E.J., Fortman, M., Chen, W.Y., Kopchick, J.J. :
Effect of Genetic Background on Growth of Mice Hemizygous for Wild-Type or Dwarf Mutated Bovine Growth Hormone Transgenes Theoretical and Applied Genetics 87:161-169, 1993.
1992 Glendenning, S.J. :
Dwarf Calves Veterinary Record 130:147, 1992. Pubmed reference: 1557889.
Hidiroglou, M., Ivan, M., Proulx, J.G., Davicco, M.J., Coxam, V., Barlet, J.P. :
Plasma 1,25-Dihydroxyvitamin-D, Insulin-Like Growth Factor-1, Calcium, Magnesium and Phosphorus Concentrations in Pregnant Beef Cows and Calves from a Herd with a Known History of Congenital Joint Laxity and Dwarfism Research in Veterinary Science 53:32-37, 1992. Pubmed reference: 1410815.
Mee, J.F., Langley, O.H., Donnelly, W.J. :
Dwarf Calves Veterinary Record 130:84, 1992. Pubmed reference: 1553814.
Proulx, J.G., Ribble, C.S. :
Congenital Joint Laxity and Dwarfism in a Beef Research Herd Canadian Veterinary Journal - Revue Veterinaire Canadienne 33:129-130, 1992.
1991 Muir, R. :
Dwarf Calves Veterinary Record 129:495, 1991.
1990 Distl, O., Schams, D., Graf, F., Meyer, J., Krausslich, H. :
Investigations of Calves Affected by Proportionate Dwarfism Tierarztliche Umschau 45:727, 1990.
Hidiroglou, M., Ivan, M., Bryan, M.K., Ribble, C.S., Janzen, E.D., Proulx, J.G., Elliot, J.I. :
Assessment of the Role of Manganese in Congenital Joint Laxity and Dwarfism in Calves Annales de Recherches Veterinaires 21:281-284, 1990. Pubmed reference: 2288454.
1975 Weaver, A.D. :
Dwarfism in cattle Veterinary Annual 15:7-9, 1975.
1969 Bruere, A.N. :
Dwarfism in beef cattle: diagnosis and control New Zealand Veterinary Journal 17:205-209, 1969. Pubmed reference: 5265078. DOI: 10.1080/00480169.1969.33830.
1967 Gottwald, W. :
Dwarfism among the progeny of a Spotted Mountain bull Zuchthygiene 2:63-67, 1967.
Hanset, R. :
An achondroplastic syndrome in the central and Upper Belgian and East Flemish Red Pied breeds of cattle Annales de Medecine Veterinaire 111:493-505, 1967.
Lauvergne, J.J. :
[The hereditary anomaly 'Bulldog' in the French Friesian breed] Mens Society of Veterinary Practice Fr. Bulletin 51:179-185, 1967.
1964 Marle, J. van, Lombard, P.E. :
The occurrence of dwarfism among Afrikaner cattle South African Journal of Agricultural Science 7:573-575, 1964.
1963 Gregory, P.W., Guilbert, H.R., Shelby, C.E., Clark, R.T. :
Growth of Hereford cows selected and rejected for breeding Growth 27:205-223, 1963. Pubmed reference: 14062570.
Marlowe, T.J. :
Variations among homozygous dwarf, heterozygous normal beef cattle Virginia Journal of Science 14:179-171, 1963.
1962 Brown, H.E., Kunkel, H.O., Prescott, J.M. :
Fasting amino acid patterns in plasma of normal and dwarf beef cattle Journal of Animal Science 21:970, 1962.
Nordlund, S. :
Lethal defects and their combating in Swedish Friesian cattle Proceedings of the Fourth International Congress on Animal Reproduction, The Hague 4:765-767, 1962.
1961 Gregory, P.W., Tyler, E.S., Julian, L.M. :
Bovine achondroplasia. IV. Articulation of lumber vertebrae in brachycephalic dwarfs Growth 25:265-279, 1961. Pubmed reference: 13901654.
1960 Bovard, K.P. :
Hereditary dwarfism in beef cattle Animal Breeding Abstracts 28:223-237, 1960.
Foley, C.W., Comfort, J.E., Lasley, J.F. :
Blood sugar level in normal and dwarf beef cattle before and after insulin injections Missouri Agricultural Experiment Station Research Bulletin :31, 1960.
Foley, C.W. :
Variations in the physiological response to stress in dwarf and normal beef animals Dissertation Abstracts 20:3808 only, 1960.
Hafez, E.S.E., Rupnow, E.H. :
Proportionality of organ development in osteodystrophic dwarf beef cattle Journal of Agricultural Science 55:351-358, 1960.
Marlowe, T.J. :
A comparison of the growth hormone content of the pituitary glands from dwarf and normal beef calves Journal of Animal Science 19:810-819, 1960.
1959 Tyler, W.S., Julian, L.M., McFarland, L.S., Evans, H.E., Gregory, P.W. :
Two projections into the cranial cavity associated with achondroplastic dwarfism in cattle American Journal of Veterinary Research 20:702-707, 1959.
Witt, M., Schilling, E., Huth, F.W. :
Dwarfism in Black Pied cattle Zeitschrift fur Tierzuchtung und Zuchtungsbiologie 73:201-217, 1959.
1958 Tyler, W.S., Julian, L.McK., Gregory, P.W. :
The nature of the process responsible for the short headed Hereford dwarf as revealed by gross examination of the appendicular skeleton American Journal of Anatomy 101:477-496, 1958.
1957 Crenshaw, W.W., Pipes, G.W., Ruppert, H.L., Turner, C.W. :
Indications of normal pituitary and thyroid function in dwarf beef animals Montana State College Agricultural Experiment Station Bulletin :24, 1957.
Gregory, P.W., Julian, L.M., Tyler, W.S. :
The validity of dwarf carrier cows as testers for the major dwarf conditioning gene Journal of Animal Science 16:1028, 1957.
Julian, L.M., Tyler, W.S., Hage, T.J., Gregory, P.W. :
Premature closure of the spheno-occipital synchondrosis in the horned Hereford dwarf of the 'short headed' variety American Journal of Anatomy 100:269-288, 1957. Pubmed reference: 13435230. DOI: 10.1002/aja.1001000206.
Koger, M. :
Midgetism in the American Braham Internatuional Braham Review 3:6 only, 1957.
Tyler, W.S., Julian, L.M., Gregory, P.W. :
The nature of the process responsible for the short-headed Hereford dwarf as revealed by gross examination of the appendicular skeleton American Journal of Anatomy 101:477-496, 1957. Pubmed reference: 13520598. DOI: 10.1002/aja.1001010307.
1956 Cornelius, C.E., Tyler, W.S., Gregory, P.W. :
Chemical and hematological studies on blood of bovine dwarfs Proceedings of the Society for Experimental Biology and Medicine 92:522-524, 1956. Pubmed reference: 13359453.
Tyler, W.S., Julian, L.M., Gregory, P.W. :
Identification of the process responsible for the short headed Hereford dwarf based on anatomical studies Journal of Animal Science 15:1207-1208, 1956.
1955 Gotink, W.M., de Groot, T., Stegenga, T. :
Hereditary defects of cattle in the Netherlands Tijdschrift voor Diergeneeskunde 80 supplement:1-45, 1955.
Koger, M., Dollahon, J.C., Warnick, A.G., Kirk, W.G., Hentges, J.F., Palmer, A.Z. :
Forms of dwarfism in English and Brahman breeds of beef cattle Journal of Animal Science 14:1186-1187, 1955.
Roubicek, C.B., Clark, R.T., Pahnish, O.F. :
Dwarfism in beef cattle. A literature review Denver Colorado : Office of the Coardinator, Beef Cattle Breeding Research :80, 1955.
1954 Chambers, D., Marlowe, T.J., Whatley, J.A. :
A review of studies on dwarfism in beef cattle Oklahoma State University Agricultural Experiment Station Miscellaneous Publications No MP-34:29-39, 1954.
Chambers, D., Whatley, J.A., Stephens, D.F. :
The inheritance of dwarfism in a comprest Hereford herd Journal of Animal Science 13:956-957, 1954.
Marlowe, T.J., Chambers, D. :
Some endocrine aspects of dwarfism in beef cattle Journal of Animal Science 13:961 only, 1954.
Stonaker, H.H. :
Dwarfism in beef cattle Proceedings of the Annual Meeting of the Western Section of the American Society of Animal Production (Oregon State College, Corvallis, Oregon) 5:239-242, 1954.
1953 Jeffreys, M.D.W. :
Bos brachyceros or dwarf cattle Veterinary Record 65:393-396, 410-415, 1953.
1952 Lush, J.L., Hazel, L.M. :
Inheritance of dwarfism American Hereford Journal 42:32 only, 1952.
1951 Carroll, F.D., Gregory, P.W., Rollins, W.C. :
Thyrotrophic-hormone deficiency in homozygous dwarf beef cattle Journal of Animal Science 10:916-921, 1951.
1948 Berger, J., Innes, J.R.M. :
'Bulldog' calves (chondrodystrophy, achondroplasia) in a Friesian herd Veterinary Record 60:57-58, 1948.
1941 Brandt, G.W. :
Achondroplasia in calves Journal of Heredity 32:183-186, 1941.
1939 Annett, H.E. :
A note on a new recessive lethal in cattle Journal of Genetics 37:301-302, 1939.
1937 Kuppuswami, P.S. :
Some observations on the incidence and inheritance of imperforate anus in Ganjam calves Indian Journal of Veterinary Science and Animal Husbandry 7:305-308, 1937.
1933 Carmichael, J. :
'Bull-dog' in African cattle Nature 131:878 only, 1933.
Gregory, P.W. :
The nature of size factors in domestic breeds of cattle Genetics 18:221-249, 1933.
1926 Mohr, O.L. :
Uber Letalfaktoren, mit Berucksichtigung ihres Verhaltens bei Haustieren und beim Menschen [On lethal factors, with respect to their behaviour in domestic animals and humans] Zeitschrift fur induktive Abstammungs und Vererbungslehre 41:59-109, 1926.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 16 Nov 2022
  • Changed by Imke Tammen2 on 09 Feb 2024
  • Changed by Imke Tammen2 on 10 Oct 2025