Solving the Mysteries of Obstetrics, Part 4 of 5
Chart of Genetic Defects
Maxine Kinne

Color codes Blue = specifically affects males  
Pink = specificically affects females
Green = reproductively affects both sexes
Red = contributes to dystocia

Abdominal fissure Opening in the abdominal wall and herniation of organs
Abrachia Absence of both front legs (see apodia, monobrachia, monopodia)
Acantholysis Shedding of epidermis
Achondroplasia Dwarfism
Adadctyly Partial or complete absence of toes/claws (see polydactyly and syndactyly)
Albinism Lack of pigment and pink eyes
Amorphous globosus Hair-covered ball with no body form
Anasarca Extensive subcutaneous edema
Anencephaly Absence of brain
Angular limb deformity Legs grow crookedly
Ankylosis Legs permanently bent
Anophthalmia Absence of one or both eyes
Apodia Absence of both hind limbs
Arthrogryposis Permanent joint contracture(s), may be associated with cleft palate,
spinal defects and prolonged gestation
Atresia ani absence of an anal opening
Autoimmune skin defects Varied
Brachygnathia Short lower jaw (overshot, parrot mouth, monkey mouth)
Campylognathia Lateral deviation of the face with a normal jaw
Cataracts Lens opacity in one or both eyes
Cerebellar ataxia Staggering and incoordination (CNS)
Cerebellar hypoplasia Under-developed cerebellum (part of brain)
Choanal atresia Partial or total blockage of nostrils by an internal membrane
Cleft palate Fissure in the hard or soft palate
Collagen dysplasia Extreme skin fragility
Coloboma Absence or defect of eye tissue
Conjoined fetuses Siamese twins
Contracted tendons Leg joints flexed, most commonly at pastern/fetlock
Cryptorchidism One or both testicles absent/retained in body cavity (testicular aplasia)
Cyclopia One eye
Cystic ovaries Ovarian follicles do not ovulate, frequent/prolonged estrus
Dermoid cyst Subcutaneous/ovarian/eyelid tumor
Contains hair follicles, sweat glands, nerve elements, teeth
Double cervix Two cervixes (mullerian duct defect)
Entropion Eyelids turned inward
Epididymis defects Several defects inside the testicles
Epilepsy Characterized by seizures (CNS)
Exencephaly Defective cranium with brain exposed
Freemartin Heifer co-twin to bull, due to placental anastamosis.
Small vulva, blind vagina, ovarian hypoplasia. Can occur in goats
Gangliosidosis (CNS) enzyme defect, neuromuscular dysfunction and impaired growth
Glaucoma increased pressure in the eye
Gluconeogenesis Type II (CNS) metabolic defect; incoordination and muscle weakness
Goiter Thyroid gland dysfunction (also caused by nutritional factors)
Heart defects Many types
Hermaphroditism Internal genitals and gonads of both sexes, external genitals intermediate
Holocardius acephalus Front legs and head absent
Hydrallantois Excess allantoic fluid
Hydramnios Excess amniotic fluid, commonly associated with fetal deformity
Hydrancephaly Brain absent and replaced with fluid-filled tissue
Hydrocephalus Excess CSF fluid in brain; enlarged head, many associated defects
Hypotrichosis Hairlessness
IgG2 deficiency Immune deficiency
Intersex Hermaphrodite or pseudohermaphrodite
Inverted nipples Teats turned inward
Mammary gland aplasia/hypoplasia One or more missing glands / One or more glands smaller than normal
Mannosidosis Metabolic defect with CNS signs
Microphthalmia Eyes much smaller than normal
Monobrachia Absence of one front limb
Monopodia Absence of one hind limb
Mullerian duct defects Males appear as some type of intersex
Females - partial or complete absence of the vagina, cervix or uterus
Muscular dystrophy Muscle degeneration, weakness, wasting and possible contracture
Muscular hypertrophy 'Double muscling' as in Belgian Blue cattle and Callipyge sheep
Neuronal lipodystrophy Storage disease with neurological signs
Nyctalopia Night blindness
Ovarian aplasia/hypoplasia One or both ovaries absent
Parakeratosis (Lethal trait L-46) Reduced intestinal capacity to absorb zinc, lymphoid & thymic hypoplasia,
dermal and intestinal lesions at young age
Patent urachus Urachus does not close at birth, dribbling urine
Penis defects Shorter than normal, deviated, persistent frenulum
Perosumus elumbis Absence of spinal column beyond the ribs
Persistent frenulum Failure of the frenulum to separate; impairs breeding ability
Persistent hymen Vaginal membrane remains unbroken after breeding
Polydactyly Extra toes
Polythelia Supernumerary teats (see supernumerary and synthelia)
Prognathism Short upper jaw (undershot jaw)
Prolonged gestation Either a large nonviable fetus or a small defective fetus
Protoporyphria Enzyme defect causing haemolytic anemia, photosensitivity, dermatitis, hair loss
Pseudohermaphrodite Gonads of one sex but contradiction in appearance.
Females are genetically and gonadally female with partial masculinization.
Males are genetically and gonadally male with incomplete masculinization.
Pyloric stenosis Partial or complete stricture of pyloric opening to rumen
Renal agenesis Absence of one or both kidneys
Retinal dysplasia Nonattached retina
Schistosomus reflexus Spinal cord bent backward, open body cavity with organs exposed
Scoliosis Lateral deviation of spinal column
Scrotal hernia Protrusion of intestines into the scrotum
Seminal vesicular gland defects Several defects inside testicles
Spastic paresis Contracture of hind leg muscles; shows up from 3 months to 2 years old
Spermatozoa defects Varied
Spina bifida Defective closure of spinal parts
Strabismus Deviation of one eyeball
Supernumerary teats More than the usual number of teats
Syndactyly One toe (claw) instead of two
Synthelia Fused teats (bifurcal)
Testicular hypoplasia One or both testes smaller than normal
Torticollis Twisted neck, wry neck
Umbilical hernia Protrusion of abdominal contents through abdominal wall
Uterus didelphys Double uterus (mullerian duct defect)
Vaginal or vulval atresia Absence of vaginal or vulval opening
Vaginal prolapse Eversion of vagina (may include cervix) through the vulva
(also caused by nutritional factors and body type combined with large litter)
Wry tail Defect between coccygeal vertebrae

Solving the Mysteries of Obstetrics

1   Normal Birth
2  Recognizing and Assisting Dystocia

3   Special Pregnancy Problems
4   Hereditary and Congenital Defects

5   Causes of Dystocia (chart)



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Updated 2002
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