The detail information of Osteochondrodysplasia - skeletal dwarfism
Basic Information

Disease Ontology ID: DDTO:0000034

Disease Description: Osteochondrodysplasia describes a range of disorders which are characterized by abnormal growth of cartilage and bone.

Inherit Mode: -

Disease Symptom: This condition is autosomal recessivein several of the breeds in which it occurs.

Disease Cause: -

Disease Diagnose: There is a range in the severity of problemscaused by thiscondition. Mildly affected dogs may have short stature due to shortlimbs, with noassociated clinical problems. Progressively more severe effectsinclude bowed limbs, orlimbs which are angled to the side, enlarged and deformed joints,joint looseness,lameness, decreased ability to exercise, and severe debilitation.Animals with thiscondition are more likely to develop arthritis and joint pain.

Treat Method: Your veterinarian will make this diagnosis based onyour dog'sphysical appearance; x-rays may be taken to confirm the diagnosis, orto screen puppiesless than 13 weeks of age for this condition.

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Osteochondrodysplasia Also known as pseudoachondroplastic dysplasia 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
CB120 Great Pyrenees Calm, patient, smart; strong-willed yet affectionate 68.6-81.3 cm (male), 63.5-73.7 cm (female) 45.4 kg & up (male), 38.6 kg & up (female) France, Spain
CB147 Labrador Retriever Friendly and outgoing, Labs play well with others 57.2-62.2 cm (male), 54.6-59.7 cm (female) 29.5-36.3 kg (male), 24.9-31.8 kg (female) Canada, United Kingdom (England)
CB170 Norwegian Elkhound Confident, dependable; dignified but friendly 52.1 cm (male), 49.5 cm (female) 24.9 kg (male), 21.8 kg (female) Norway
CB210 Samoyed Gentle, adaptable, eager, friendly; conservative but never shy 53.3-59.7 cm (male), 48.3-53.3 cm (female) 20.4-29.5 kg (male), 15.9-22.7 kg (female) Russia
CB213 Scottish Deerhound Dignified, gentle, polite; quietly intelligent and perceptive 76.2-81.3 cm (male), 71.1 cm & up (female) 38.6-49.9 kg (male), 34-43.1 kg (female) United Kingdom (Scotland)
Associated Disease Variants from OMIA
Gene Differential Expression
References
2012 Jackson,G.C.,Mittaz-Crettol,L.,Taylor,J.A.,Mortier,G.R.,Spranger,J.,Zabel,B.,LeMerrer,M.,Cormier-Daire,V.,Hall,C.M.,Offiah,A.,Wright,M.J.,Savarirayan,R.,Nishimura,G.,Ramsden,S.C.,Elles,R.,Bonafe,L.,Superti-Furga,A.,Unger,S.,Zankl,A.,Briggs,M.D.: :
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 33:144-57, 2012.
Pubmed reference: 21922596 . DOI: 10.1002/humu.21611 .
2012 Neff,M.W.,Beck,J.S.,Koeman,J.M.,Boguslawski,E.,Kefene,L.,Borgman,A.,Ruhe,A.L.: :
Partial Deletion of the Sulfate Transporter SLC13A1 Is Associated with an Osteochondrodysplasia in the Miniature Poodle Breed. PLoS One 7:e51917, 2012.
Pubmed reference: 23300579 . DOI: 10.1371/journal.pone.0051917 .
1999 Stevens,J.W.: :
Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J 19:53-65, 1999.
Pubmed reference: 10847517 .
1995 Johnson KA, Watson ADJ, Page RL. :
Skeletaldiseases W.B. Saunders Co., Toronto. EJ Ettinger and EC Feldman(eds) Textbook of Veterinary InternalMedicine, p. 2087
1992 Breur,G.J.,Farnum,C.E.,Padgett,G.A.,Wilsman,N.J.: :
Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am 74:516-28, 1992.
Pubmed reference: 1583046 .
1989 Breur,G.J.,Zerbe,C.A.,Slocombe,R.F.,Padgett,G.A.,Braden,T.D.: :
Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc 195:606-12, 1989.
Pubmed reference: 2777707 .
1980 Riser,W.H.,Haskins,M.E.,Jesyk,P.F.,Patterson,D.F.: :
Pseudoachondroplastic dysplasia in Miniature Poodles: : clinical, radiologic, and pathologic features. Journal of the American Veterinary Medical Association 176:335-341, 1980.
Pubmed reference: 6987200 .
1977 Bruno,W.,Janik,T.: :
What's your diagnosis? Journal of American Veterinary Medical Association 170:1097–1098, 1977.
1966 Lodge,D.: :
Two cases of epiphyseal dysplasia. Veterinary Record 79:136–138, 1966.
1961 Amlof,J.: :
On achondroplasia in the dog. Zentralblatt fur Veterinaermed 8:43–56, 1961.
1959 Gardner,D.: :
Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio 77:243-247, 1959.
1956 Cotchin,E.,Dyce,K.: :
A case of epiphyseal dsyplasia in a dog. Veterinary Record 68:427–428, 1956.