Hereditary Defects

Number Name of Defect Description

1

Acanthosis nigricans Thickening and darkening of the skin in the armpits

2

Acquired aurotrichia Change in coat color to gold

3

Acral lick dermatitis Also known as lick granuloma; skin disease due to excessive licking of one area of skin by the animal

4

Acral mutilation syndrome Mutilation of the feet and legs by the animal. Sometimes associated with lack of pain sensation (peripheral sensory neuropathy)

5

Addison’s disease Also known as hypoadrenocorticism; inadequate secretion of hormones from the adrenal glands

6

Adrenal sex hormone imbalance Abnormal secretion of estrogen, progesterone, and/or testosterone from the adrenal glands

7

Allergies Also known as atopy; allergies to antigens inhaled or ingested

8

Amyloidosis Abnormal deposition of amyloid (a protein) in various body tissues causing impaired function

9

Anterior crossbite Incisors of upper jaw sit behind incisors of lower jaw when mouth is closed

10

Aseptic meningitis Inflammation of the tissue around the brain and spinal cord not associated with infection

7

Atopy Also known as allergies; allergies to antigens inhaled or ingested

11

Atrial septal defect Permanent opening in the wall between the two upper chambers of the heart

12

Atrophic membranous glomerulopathy Kidney dysfunction due to abnormal renal anatomy

13

Base-narrow canines Lower canines displaced too far into the mouth

14

Black hair follicular dysplasia Thinning and dulling of black hair

15

Bloat Also known as gastric dilatation and volvulus; filling of the stomach with gas with eventual twisting of the stomach

16

Brachycephalic syndrome Anatomical abnormalities of the mouth, nasal cavity, and trachea associated with a short muzzle

17

Brachygnathism Overbite; also known as shark mouth, pig jaw

18

Bronzing syndrome Patchy, poor haircoat and change in skin color to bronze

19

Bullous pemphigoid Autoimmune disease associated with formation of painful large blisters

20

C3 deficiency Deficiency of complement 3 with associated abnormal immune function

21

Calcinosis circumscripta Development of firm masses of calcium in tissue

22

Calcium oxalate urolithiasis Stones in the urinary tract composed of calcium oxalate

23

Cardiomyopathy Heart failure due to dilatation of the chambers of the heart (dilated cardiomyopathy) or thickening of the wall (hypertrophic cardiomyopathy)

24

Cataracts Mineralization of the lens of the eye

25

Cauda equina syndrome Neurological disorder characterized by lameness in the hind limbs that may be associated with narrowing of the vertebrae

26

Central PRA Slow deterioration of the center of the retina

27

Cerebellar abiotrophy Abnormal formation and function of the neurons in the cerebellum

28

Cerebellar vermian hypoplasia Decreased development of the cerebellum

29

Ceroid lipofuscinosis Deposition of fatty pigments in the brain

30

Cervical vertebral instability Also known as Wobbler syndrome; dislocation of vertebrae in the neck associated with incoordination of the hind limbs

31

Chronic inflammatory hepatic disease Inflammatory liver disease; also known as chronic active hepatitis

32

Ciliary dyskinesia Lack of function of ciliated (moving) cells throughout the body

33

Cleft lip/palate Incomplete closure of the hard palate (roof of the mouth) and/or lips such that the inside of the nose opens into the mouth

34

Cobalamin malabsorption Inability to take up and use the vitamin cobalamin

35

Collie eye anomaly Multiple abnormalities of the eye developing secondary to extreme narrowness of the head

36

Color dilution alopecia Loss of hair in individuals with the “light” variation of coat color; also known as color mutant alopecia, blue dog disease

37

Combined immunodeficiency Multiple abnormalities of the immune system associated with recurrent infections

38

Comedo syndrome Formation of multiple blackheads in the skin; also known as “schnauzer crud”

39

Compulsive tail chasing Behavioral change; animal is obsessed with tail chasing

40

Copper hepatopathy Liver disease due to inability to use and store copper properly; also known as copper storage disease

41

Corneal dystrophy Abnormal development of the cornea (surface of the eye) associated with pitting

42

Craniomandibular osteopathy Abnormal development of the bones of the face and jaw

43

Cruciate ligament rupture Tearing of the ligament within the knee or stifle that prevents sideways movement of the joint

44

Cryptorchidism Lack of descent of one or both testes into the scrotum by 6 months of age

45

Cushing’s disease Also called hyperadrenocorticism; excessive secretion of hormones from the adrenal glands, especially cortisol

46

Cutaneous and renal glomerular vasculopathy Ulcerative disorder of the skin and kidneys

47

Cutaneous asthenia The skin lacks normal elasticity and strength; also known as Ehlers-Danlos syndrome, dermatosparaxis

48

Cutaneous lupus erythematosus Autoimmune disease characterized by skin inflammation

49

Cyclic hematopoiesis Unpredictable declines in number of platelets, white blood cells, or red blood cells

50

Cystinuria Excessive amount of cystine excreted in the urine

51

Dancing Doberman disease Progressive neurologic disorder characterized by “dancing” back and forth in the hind limbs

52

Deafness Inability to hear

53

Deep pyoderma Infection of all layers of the skin

54

Degenerative myelopathy Progressive decrease in myelin with subsequent abnormal neurologic function

55

Demodicosis Mange caused by the mite Demodex canis; also known as red mange

56

Dermatomyositis Inflammation of the skin and muscles

57

Dermoid Skin-like appendage on one or both eyes

58

Dermoid sinus Large growth composed of skin-like structures

59

Diabetes mellitus Insulin deficiency or inability of cells to use insulin properly, resulting in elevated concentration of sugar in the bloodstream

60

Distichiasis Abnormal growth of eyelashes, such that they rub against the eyeball

61

Dry eye Also known as keratoconjunctivitis sicca; one or both eyes do not produce an adequate amount of tears

62

Dysfibrinogenemia Abnormal formation or function of fibrinogen, a clotting factor

63

Dysmyelinogenesis Abnormal formation of myelin, which surrounds neurons and enhances their function

64

Ectodermal defect Large possible number of abnormalities due to abnormal development of fetal ectoderm

65

Ectodermal dysplasia Symmetrical hair loss associated with abnormal or missing teeth

66

Ectropion Rolling out of the eyelids

67

Entropion Rolling in of the eyelids

68

Eosinophilic granuloma Mass formed due to abnormal accumulation of inflammatory cells

69

Epidermolysis bulla Abnormally loose skin associated with large, deep blisters

70

Epilepsy Abnormalities of consciousness (“fly-biting”) or convulsions

71

Exocrine pancreatic insufficiency Lack of secretion of digestive enzymes by the pancreas

72

Factor II deficiency Lack of formation and secretion of clotting factor II; also known as hypoprothrombinemia

73

Factor VII deficiency Lack of formation and secretion of clotting factor VII; also known as hemophilia A

74

Factor VIII deficiency Lack of formation and secretion of clotting factor VIII

75

Factor IX deficiency Also known as hemophilia B; lack of formation and secretion of clotting factor IX

76

Factor X deficiency Lack of formation and secretion of clotting factor X

77

Familial benign pemphigus Skin disorder characterized by small bumps that enlarge and become hairless

78

Familial glomerulonephropathy Abnormal function of the glomeruli within the kidneys

79

Familial nephropathy Abnormal kidney function

80

Familial vasculopathy Abnormality of the blood vessels

81

Fanconi syndrome Abnormal function of the tubules within the kidney

82

Femoral artery occlusion Blockage of the femoral artery, the main blood supply to the rear limb

83

Fibrinoid leukodystrophy Progressive neurologic disorder

84

Flank sucking Continuous chewing on the flank

85

Focal retinal degeneration Localized breakdown of the retina

86

Fold dermatitis Skin inflammation in folds of the skin

87

Fragmented coronoid process Abnormal bone and cartilage development associated with a free piece of bone in the elbow joint

15

Gastric dilatation and volvulus Also known as bloat; filling of the stomach with gas with eventual twisting of the stomach

88

Giant axonal neuropathy Progressive paralysis and muscle atrophy

89

Glaucoma Elevated pressure within the eye

90

Globoid cell leukodystrophy Abnormal function or development of globoid cells in the brain

91

Glucocerebrosidosis Enzyme deficiency associated with progressive neurologic disease

92

Glomerulonephritis Inflammatory kidney disease

93

Gluten-sensitive enteropathy Inability of the intestines to absorb nutrients due to sensitivity to gluten in wheat; also known as wheat-sensitive enteropathy

94

Glycogen storage disease III Inability to use and store glycogen, a storage form of carbohydrate

95

GM-1 gangliosidosis Enzyme deficiency associated with accumulation of lipid in nerves and nervous system dysfunction

96

GM-2 gangliosidosis Enzyme deficiency associated with accumulation of lipid in nerves and nervous system dysfunction

97 98

Gracilis or semitendinosus myopathyGreyhound alopecia Scarring of muscle associated with lamenessHair loss

99

Growth hormone–responsive dermatosis Skin abnormality reversed by administration of growth hormone

100

German shepherd dog (GSD) pyoderma Aggressive infection of all layers of the skin

101

Hemeralopia Inability to see in daylight

102

Hemivertebra Abnormal formation of vertebrae such that they only are half-formed

103

Hemolytic anemia Destruction of red blood cells

75

Hemophilia B Also known as factor IX deficiency

104

Hereditary myelopathy Progressive neurologic disorder

105

Heterochromia iridis Presence of different colors in the same or both irises of the eye

106

Hip dysplasia Abnormal development of the hip joint

107

Histiocytic ulcerative colitis Inflammation of the large intestine associated with ulceration and invasion of inflammatory cells (histiocytes)

108

Histiocytosis Abnormal deposition of histiocytes causing skin disease or disorders of multiple tissues or organ systems

109

Hound ataxia Progressive abnormal gait in the hind limbs

110

Hydrocephalus Abnormal accumulation of fluid in the ventricles of the brain

45

Hyperadrenocorticism Also called Cushing’s disease; excessive secretion of hormones from the adrenal glands, especially cortisol

111

Hyperlipidemia Elevated levels of fat in the bloodstream

112

Hyperparathyroidism Excessive secretion of parathormone

113

Hypertrophic osteodystrophy Excessive bony growth associated with rapid growth

5

Hypoadrenocorticism Also known as Addison disease; inadequate secretion of hormones from the adrenal glands

114

Hypofibrinogenemia Decreased levels of fibrinogen (a clotting factor) in the bloodstream

115

Hypoplastic trachea Incomplete development of the trachea or windpipe

116

Hypothyroidism Inadequate formation and secretion of thyroid hormones

117

Hypotrichosis Abnormally small growth of hair

118

Ichthyosis Extreme thickening of skin and foot pads

119

IgA deficiency Too low formation and secretion of immunoglobulin A on surfaces

120

Immunoproliferative enteropathy Chronic intermittent diarrhea, lack of appetite, and weight loss due to multiple abnormalities of intestinal function

121

Incomplete ossification of humeral condyles Lack of complete bony development of the bones of the upper arm at the shoulder

122

Intersex Abnormal development of gonads and/or external genitalia

123

Intervertebral disk disease Disks between the vertebra are pushed away from between the bone or become rigid

124

Intestinal lymphangiectasia Abnormality of the lymph system associated with inability of the intestines to absorb nutrients normally

125

Juvenile cellulitis Also known as puppy strangles; enlargement of lymph nodes in young animals

61

Keratoconjunctivitis sicca Also known as dry eye; one or both eyes do not produce an adequate amount of tears

126

Lafora body disease Degenerative neurologic disorder associated with seizures; also known as glycoproteinosis, alpha-glucosidase deficiency

127

Laryngeal paralysis Inability of the larynx and vocal cords to function

128

Legg-Calvé-Perthes disease Condition associated with lack of blood flow to the top of the femoral bone at the hip

129

Lens luxation Dislocation of the lens of the eye

130

Lentigo Black spots on the skin

131

Lethal acrodermatitis Fatal deficiency of immune function characterized by skin and neurologic disorders

132

Leukocyte adhesion deficiency Recurrent infection due to abnormal function of white blood cells

133

Level bite Incisors meet end on instead of the upper incisors overlying the lower incisors

134

Lichenoid-psoriasiform dermatitis Inflamed plaques initially on ears, progressing over the head and trunk

3

Lick granuloma Also known as acral lick dermatitis; skin disease due to excessive licking of one area of skin by the animal

135

Lissencephaly Lack of development of grooves on the surface of the brain

136

Lupoid onychopathy Inflammatory disorder of the nail beds

137

Lupus erythematosus Destruction of multiple tissues in the body by the animal’s own immune cells characterized by skin disease, arthritis, and kidney disease

138

Lymphedema Accumulation of lymph fluid in tissues with swelling and edema

139

Macrocytosis / dyshematopoiesis Enlarged red blood cells, abnormal blood cell formation

140

Macrocytosis/ stomatocytosis Enlarged red blood cells, abnormal blood cell formation

141

Macrothrombocytopenia Enlarged platelets

142

Malassezia dermatitis Yeast infection of the skin

143

Malignant hyperthermia Muscle contraction associated with fever and possible failure of the heart and kidneys

144

Magnesium-ammonium-phosphate (MAP) urolithiasis Stones in the urinary tract composed of magnesium, ammonium, and phosphate

145

Masticatory myositis Inflammation of the muscles associated with chewing

146

Megaesophagus Dilatation and abnormal function of the esophagus

147

Methemoglobin reductase deficiency Abnormal function of an enzyme involved in oxygen transfer at the red blood cells

148

Microcytosis Abnormally small red blood cells

149

Micropapilla Small optic nerve on the retina

150

Microphthalmia One or both eyes too small

151

Mitochondrial myopathy Exercise intolerance due to abnormal metabolism in muscle

152

Mitral valve disease Abnormal function of the mitral valve within the heart

153

Mucinosis Accumulation of mucin in the skin, giving puffy appearance

154

Mucopoly-saccharidosis I Enzyme deficiency causing dysfunction in multiple tissues and organ systems

155

Mucopoly-saccharidosis VI Enzyme deficiency causing dysfunction in multiple tissues and organ systems

156

Muscular dystrophy Abnormal protein in muscle associated with muscle rigidity and lameness

157

Myasthenia gravis Autoimmune disease of the muscles and nerves associated with muscle fatigue

158

Mycobacterial susceptibility Increased predisposition to infection with avian mycobacteria

159

Myelodysplasia Malformation of the spinal cord and associated tissues

160

Myoclonus Extreme muscle stiffness associated with stimulation or stress

161

Myotonia Persistent muscle contractions

162

Narcolepsy Uncontrolled and excessive episodes of sleep

163

Necrotizing meningoencephalitis Inflammation and death of cells within the nervous system

164

Nervous system degeneration Progressive degeneration of the nervous system

165

Neuroaxonal dystrophy Abnormal development and function of neurons associated with progressive weakness and incoordination

166

Neutrophil bactericidal defect Chronic infection due to decreased function of white blood cells

167

Night blindness Inability to see at night

168

Nodular dermatofibrosis Formation of nodules of scar tissue in the skin

169

Nodular panniculitis Formation of inflammatory nodules under the skin

170

Nonspherocytic hemolytic anemia Destruction of red blood cells

171

Osteochondritis dissecans (OCD), hock Abnormal formation of cartilage in the hock joints

172

OCD, shoulder Abnormal formation of cartilage in the shoulder joints

173

OCD, stifle Abnormal formation of cartilage in the stifle joints

174

Oligodontia Too few teeth

175

Open bite Abnormally large gap between upper and lower incisors when mouth is closed

176

Optic nerve coloboma Pits in the retina at the area of the optic nerve

177

Optic nerve dysplasia Abnormal development of the optic nerve

178

Optic nerve hypoplasia Decreased size of the optic nerve

179

Osteochondro-dysplasia Abnormal development of bone and cartilage

180

Osteogenesis imperfecta Abnormal structure or mineralization of bone

181

Pain syndrome Fever, depression, and excessive sensitivity of the neck

182

Pancreatitis Inflammation of the pancreas

183

Pannus Abnormal growth of tissue and pigmentation of the cornea; also known as chronic superficial keratitis

184

Panosteitis Inflammation of the tissue covering the bone

185

Patellar luxation Dislocation of the kneecaps

186

Patent ductus arteriosus Failure of closure of the normal fetal opening between the blood supply and fetal lungs

187

Pedal panniculitis Inflammatory disorder of the foot pads

188

Pelger-Huët anomaly Abnormal development with subsequent decreased function of white blood cells

189

Pemphigus foliaceus Autoimmune skin disorder

190

Peripheral vestibular disease Abnormal function of the vestibular nervous system associated with abnormal balance

191

Persistent atrial standstill Lack of normal electrical function within the heart requiring implantation of a pacemaker

192

Persistent Müllerian duct syndrome Formation of portions of the female reproductive tract within the abdominal cavity of a male dog

193

Persistent primary vitreous Abnormality of development of the eye

194

Persistent pupillary membranes Abnormal formation of the iris of the eye

195

Persistent right aortic arch Persistence of a fetal structure overlying the base of the heart

196

Phosphofructokinase deficiency Lack of a red blood cell enzyme associated with anemia and destruction of red blood cells

197

Pituitary dwarfism Lack of normal growth due to an abnormality of the pituitary gland

198

Platelet delta granule deficiency Platelet abnormality associated with episodes of bleeding

199

Pneumocystosis Respiratory infection associated with Pneumocystis carinii

200

Polioencephalo-myelopathy Degenerative progressive neurologic disorder

201

Polyneuropathy Several abnormalities of neurologic function associated with progressive incoordination

202

Portosystemic shunt Formation of abnormal blood connections surrounding the liver

203

Posterior crossbite Premolars and molars of the lower jaw displaced too far outside those of the upper jaw

204

Prekallikrein deficiency Clotting abnormality

205

Prognathism Underbite

206

Progressive axonopathy Enlarged neurons associated with progressive neurologic dysfunction

207

Progressive retinal atrophy Slow deterioration of the retina

208

Prolapsed gland of nictitans Bulging of a gland on the inner corner of the eye; also known as cherry eye or haw

209

Proliferative episcleritis Noninflammatory change in the appearance of the cornea associated with visual impairment

210

Pseudohyperkalemia Increased potassium content in blood cells

211

Pulmonic stenosis Inadequate opening of the valve between the heart and lungs

125

Puppy strangles Also known as juvenile cellulitis; enlargement of lymph nodes in young animals

212

Pyloric stenosis Inadequate opening from the stomach into the small intestines

213

Pyruvate kinase deficiency Deficiency of red blood cell enzyme

214

Rage syndrome Sudden unprovoked aggression

215

Renal agenesis Lack of development of one or both kidneys

216

Renal amyloidosis Deposition of amyloid (a protein) into the kidney

217

Renal dysplasia Abnormal formation and function of one or both kidneys

218

Renal glucosuria Loss of sugar into the urine at the level of the kidney

219

Retained primary teeth Retention of baby teeth after eruption of the adult teeth

220

Retinal dysplasia Abnormal development of the retina

221

Retinal pigmented epithelial dystrophy Abnormal formation of the pigmented tissue in the eye

222

Rostrally displaced maxillary canine Adult canine teeth erupt too far forward and point outward; also known as lance canine

223

Sacrocaudal dysgenesis Malformation of the caudal vertebrae and spinal cord

224

Saddle alopecia Hair loss over the back as in the area of a saddle

225

Scotty cramp Periodic, generalized cramping of muscles

226

Seasonal flank alopecia Periodic hair loss in the flank(s); also known as recurrent flank alopecia

227

Sebaceous adenitis Autoimmune destruction of sweat glands associated with hair loss

228

Seborrhea Excessive production of skin oils associated with scaling and odor

229

Sensory neuropathy Loss of pain sensation to the feet and limbs associated with self-mutilation

230

Shaker syndrome Muscular tremors over the entire body, in-coordination, and rapid eye movements

231

Sick sinus syndrome Abnormal firing of the heart leading to abnormal heart rhythm

232

Silica urolithiasis Stones of the urinary tract composed of silica

233

Small intestinal bacterial overgrowth Exuberant growth of some species of bacteria in the intestinal tract

234

Sphingomyelinosis Enzyme deficiency associated with neurologic disorders and increased liver size

235

Spiculosis Brittle, thick hair forming pointed nodules

236

Spina bifida Malformation of vertebrae with exposure of the spinal cord

237

Spinal muscular atrophy Lack of development of spinal muscles associated with general muscle weakness and poor posture and gait

238

Spongiform leukodystrophy Progressive neurologic disorder

239

Stationary night blindness Progressive loss of night vision

240

Subaortic stenosis Inadequate opening from the heart into the aorta

241

Supernumerary teeth Too many teeth

242

Tetralogy of Fallot Four abnormalities of development of the heart and large vessels occurring together

243

Thrombopathia Inadequate function of platelets

244

Thymic atrophy Atrophy of the thymus associated with inadequate immune function

245

Tracheal collapse Abnormal formation of the cartilage rings comprising the trachea

246

Tricuspid valve dysplasia Abnormal development of a heart valve

247

Tyrosinase deficiency Deficiency of an enzyme needed to break down tyrosine, an amino acid, associated with pigment changes

248

Ulcerative keratitis Inflammation and ulcers on the surface of the eye

249

Ununited anconeal process Lack of fusion of part of the elbow joint

250

Urate urolithiasis Stones in the urinary tract composed of urate

251

Uveal hypopigmentation Pale color of irises, may be associated with deafness

252

Uveodermatologic syndrome Syndrome characterized by abnormalities of the eye and skin disease; also known as Vogt-Koyanagi-Harada-like syndrome

253

Vascular ring anomaly Abnormal formation of the heart with eventual entrapment and decreased function of portions of the intestinal tract

254

Vasculitis Inflammation of blood vessels

255

Ventricular ectopy Abnormal firing of the ventricles associated with arrhythmia and sudden death

256

Ventricular septal defect Opening in the wall between the two large lower chambers of the heart

257

Vertebral stenosis Decreased space within vertebrae with compression of the spinal cord

258

Vestibular disease Abnormality of the portion of the nervous system associated with balance and hearing

259

Vitamin A–responsive dermatosis Skin condition responsive to administration of vitamin A

260

Vitiligo Decreased pigmentation of skin

261

Von Willebrand disease Blood-clotting disorder

30

Wobbler syndrome Also known as cervical vertebral instability; dislocation of vertebrae in the neck associated with incoordination of the hind limbs

262

Wooly syndrome Loss of outer, primary hairs and crimping and drying of undercoat

263

Wry mouth Differing lengths of the jaws right to left

264

Xanthine urolithiasis Stones in the urinary system composed of xanthine

265

X-linked myopathy Muscle disorder linked to the X chromosome

266

XX sex reversal Appearance of male gonadal tissue or male external genitalia in an individual with two X chromosomes and no Y chromosome

267

Zinc-responsive dermatosis Skin condition responsive to administration of zinc

 

Selections from the book: “The Dog Breeder’s Guide to Successful Breeding and Health Management”, 2006.

Leave a Reply