The detail information of Dwarfism
Basic Information

Disease Ontology ID: DDTO:0000798

Disease Description: An abnormality of the normal growth pattern resulting in an undersized individual.

Inherit Mode: -

Disease Symptom: These may include:Short legs (usually in the correct proportion to one another; seen in virtually all dwarf dogs);Long body (in comparison to short legs);Bowed legs (especially noticeable in the front legs);Enlarged joints (elbow, stifle/knee, carpus/wrist, tarsus/ankle);Outward-turned feet (valgus deformity; especially prominent in front feet);Large, wide head;Pronounced, protruding lower jaw (mandible);Short upper jaw (maxilla);Underbite (front upper teeth are behind the front lower teeth when the mouth is shut);Depressed or caved-in appearance to the maxilla and muzzle which adversely affects respiration (depressed nasal bridge);Difficulty breathing (dyspnea);Loud, snoring-like breathing (stertorous respiration);Excessive panting;Protruding tongue (partially sticking out of the mouth; frequently curls upward over the flat nose while the dog is panting);Bulging eyes;Distended abdomen;Occasional spinal deviations;Occasional spinal pain

Disease Cause: Dwarfism – or short stature in dogs - can be caused by a wide variety of things. These include:Malnutrition;Portosystemic shunts (PSS);Cardiovascular defects (abnormalities in the heart and/or blood vessels);Hydrocephalus (“water on the brain”);Kidney (renal) disease;Hypothyroidism (deficiency of thyroid hormones);Hypopituitarism (inherited deficiency of growth hormone);Hypoadrenocorticism (Addison’s disease; deficiency of adrenal gland hormones);Hyperadrenocorticism (Cushing’s disease; excessive production of adrenal hormones);Diabetes mellitus;Glycogen storage disease;Skeletal dysplasia (developmental abnormalities formed before birth [in utero]; usually caused by a genetic defect in endochondral ossification, which is the process that normally occurs in young growing animals as their cartilage transitions to bone);Hyposomatotropism (hormone deficiency);Other hormonal imbalances

Disease Diagnose: The results of a urinalysis and routine blood work (a complete blood count and serum biochemistry profile) are almost always normal in dwarf dogs, unless they also happen to have some unrelated medical disorder or disease. Usually, the physical appearance of the dog, its breed and its history are sufficient to enable the veterinarian to make a presumptive diagnosis of genetic dwarfism with some degree of confidence. Radiographs (X-rays) of the short legs, and of the skull and spine if they also appear abnormal, probably will show atypical growth of both cartilage and bone. A definitive diagnosis of dwarfism can be made by taking bone biopsies and submitting the samples to a laboratory for microscopic evaluation by a veterinary pathologist.Pituitary dwarfism can be diagnosed through hormonal testing of blood samples. The veterinarian will be looking for the level of growth hormone in circulation; pituitary dwarfs will have very low circulating levels of that particular hormone. Computed tomography (CT scan) and magnetic resonance imaging (MRI) can also be used to identify the tiny pituitary cysts which commonly are present in the pituitary gland of pituitary dwarfs.

Treat Method: Most dwarf dogs do not require treatment, because their conformational abnormalities are considered to be normal, desirable attributes of their breeds. In other dwarf dogs, where the condition is neither normal nor desirable, orthopedic surgery may be available to try and realign their short, crooked legs. Depending upon the cause of the dog’s short stature, the puppy’s age and whether or not the growth plates of affected bones are open or closed, advanced surgical techniques may be available to help the long bones of the legs to lengthen. However, these surgeries are complicated and costly. The surgical procedures would have to be done separately - and at different times - on each of the puppy’s legs. Recovery from each surgery would be long and potentially painful. As a practical matter, surgical correction of dwarfism is not considered to be a realistic option.If the condition is painful, non-steroidal anti-inflammatory drugs (NSAIDs) and other medications designed to provide pain relieve (analgesics) can be prescribed by the treating veterinarian. Certain supplements can help to lubricate the joints and provide some protection for developing or aging cartilage. These include glucosamine, chondroitin sulfate and polysulfated glycosaminoglycans. Owners should discuss use of supplements with their veterinarian.Dogs with pituitary dwarfism theoretically can be treated with growth hormone replacement therapy

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Dwarfism, generic - - - -
Dwarfism with anaemia - - - -
Dwarfism, hypochondroplastic Irish Setter dwarfism Autosomal Recessive - -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB5 Alaskan Malamute Affectionate, loyal, playful but dignified 63.5 cm (male), 58.4 cm (female) 38.6 kg (male), 34 kg (female) United States
CB17 Australian Terrier Affectionate, Courageous, Spirited 25.4-27.9 cm 5.4-8.2 kg Australia
CB80 Coton de Tulear Bright, happy-go-lucky, endlessly charming; born to love and to be loved 25.4-27.9 cm (male), 22.9-25.4 cm (female) 4.1-6.8 kg (male), 3.6-5.9 kg (female) Madagascar
CB148 Lagotto Romagnolo(Romagna Water Dog) Easygoing, affectionate, and eager to please 43.2-48.3 cm (male), 40.6-45.7 cm (female) 12.9-15.9 kg (male), 10.9-14.1 kg (female) Italy
CB186 Polish Lowland Shepherd Dog Lively, clever, confident; very loyal, but an independent worker 45.7-50.8 cm (male), 43.2-48.3 cm (female) 13.6-22.7 kg Poland
CB211 Schapendoes Friendly, high spirited, and affectionate Netherlands
CB219 Kochi Ken(Shikoku) Cautious and brave with good judgment,loyal to its master. Japan
Associated Disease Variants from OMIA
Gene Differential Expression
References
2021 Kyöstilä,K.,Niskanen,J.E.,Arumilli,M.,Donner,J.,Hytönen,M.K.,Lohi,H.: :
Intronic variant in POU1F1 associated with canine pituitary dwarfism. Hum Genet :, 2021.
Pubmed reference: 33550451 . DOI: 10.1007/s00439-021-02259-2 .
2019 Tellegen,A.R.,Dessing,A.J.,Houben,K.,Riemers,F.M.,Creemers,L.B.,Mastbergen,S.C.,Meij,B.P.,Miranda-Bedate,A.,Tryfonidou,M.A.: :
The dog as a model for osteoarthritis: the FGF4 retrogene insertion may matter. J Orthop Res :, 2019.
Pubmed reference: 31373395 . DOI: 10.1002/jor.24432 .
2017 Brown,E.A.,Dickinson,P.J.,Mansour,T.,Sturges,B.K.,Aguilar,M.,Young,A.E.,Korff,C.,Lind,J.,Ettinger,C.L.,Varon,S.,Pollard,R.,Brown,C.T.,Raudsepp,T.,Bannasch,D.L.: :
FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A 114:11476-11481, 2017.
Pubmed reference: 29073074 . DOI: 10.1073/pnas.1709082114 .
2015 Voorbij,A.M.,Meij,B.P.,vanBruggen,L.W.,Grinwis,G.C.,Stassen,Q.E.,Kooistra,H.S.: :
Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation. J Vet Intern Med 29:207-13, 2015.
Pubmed reference: 25586673 . DOI: 10.1111/jvim.12523 .
2014 Voorbij,A.M.,Leegwater,P.A.,Kooistra,H.S.: :
Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014.
Pubmed reference: 25273400 . DOI: 10.1111/jvim.12448 .
2012 Tsai,K.L.,Noorai,R.E.,Starr-Moss,A.N.,Quignon,P.,Rinz,C.J.,Ostrander,E.A.,Steiner,J.M.,Murphy,K.E.,Clark,L.A.: :
Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome 23:203-11, 2012.
Pubmed reference: 22105877 . DOI: 10.1007/s00335-011-9376-9 .
2011 Voorbij,A.M.,vanSteenbeek,F.G.,Vos-Loohuis,M.,Martens,E.E.,Hanson-Nilsson,J.M.,vanOost,B.A.,Kooistra,H.S.,Leegwater,P.A.: :
A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs. PLoS One 6:e27940, 2011.
Pubmed reference: 22132174 . DOI: 10.1371/journal.pone.0027940 .
2010 Voorbij,A.M.,Leegwater,P.A.,Kooistra,H.S.: :
[Hypopituitarism associated dwarfism in German Shepherds, saarloos wolf dogs and Czechoslovakian wolf dogs. Access to genetic testing]. Tijdschr Diergeneeskd 135:950-4, 2010.
Pubmed reference: 21287722 .
2009 Voorbij,A.M.W.Y.,Kooistra,H.S.: :
Pituitary Dwarfism in German Shepherd Dogs JCVS 2:4-11, 2009.
1998 Hanssen,I.,Falck,G.,Grammeltvedt,A.T.,Haug,E.,Isaksen,C.V.: :
Hypochondroplastic dwarfism in the Irish setter. J Small Anim Pract 39:10-4, 1998.
Pubmed reference: 9494928 .
1992 Christ,D.,Volz,R.: :
A Case of Dwarfism in a German Shepherd Praktische Tierarzt 73:565-567, 1992.
1977 Andresen,E.,Willeberg,P.: :
Pituitary dwarfism in Carelian bear-dogs: evidence of simple, autosomal recessive inheritance. Hereditas 84:232-4, 1977.
Pubmed reference: 838602 .
1975 Braund,K.G.,Ghosh,P.,Taylor,T.K.F.,Larsen,L.H.: :
Morphological studies of the canine intervertebral disc: the assignment of the Beagle to the achondroplastic classification Research in Veterinary Science 19:167-172, 1975.
Pubmed reference: 1166121 .
1974 Fletch,S.M.,Pinkerton,P.H.,Brueckner,P.J.: :
Hereditary hemolytic anemia with stomatocytosis in the Alaskan Malamute Journal of the American Veterinary Medical Association 165:728 only, 1974.
1973 Fletch,S.M.,Pinkerton,P.H.: :
Inherited hemolytic anemia with stomatocytosis in the Alaskan Malamute dog American Journal of Pathology 71:477-480, 1973.
Pubmed reference: 4715956 .
1956 Mather,G.W.: :
Achondroplasia in a litter of pups Journal of the American Veterinary Medical Association 128:327-328, 1956.
Pubmed reference: 13306642 .
1934 Vicari,E.M.: :
Ulna- radius index associated with chondrodystrophy in dogs American Naturalist 68:171-172, 1934.
1928 Stockard,C.R.: :
Inheritance of localized dwarfism and achondroplasia in dogs 38:29 only, 1928.