Topic:Congenital Disorders
Congenital disorders in horses encompass a range of structural, functional, or metabolic anomalies present at birth. These disorders may arise from genetic mutations, environmental factors, or a combination of both, affecting various systems in the equine body. Common congenital disorders in horses include cleft palate, umbilical hernias, and limb deformities. The diagnosis and management of these conditions require a multidisciplinary approach involving veterinary genetics, surgery, and rehabilitation. This page compiles peer-reviewed research studies and scholarly articles that explore the etiology, diagnosis, and management strategies for congenital disorders in equine medicine.
Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases. The syndrome Multiple Congenital Ocular Anomalies (MCOA) is the collective name ascribed to heritable congenital eye defects in horses. Individuals homozygous for the disease allele (MCOA phenotype) have a wide range of eye anomalies, while heterozygous horses (Cyst phenotype) predominantly have cysts that originate from the temporal ciliary body, iris, and/or peripheral retina. MCOA syndrome is highly prevalent in the Rocky Mountain Horse but the disease is not limited to this breed. Affected horses most often have a Silver coat color; however, a pleiotropic link between these phenotypes is y...
Perosomus elumbis, cerebral aplasia, and spina bifida in an aborted thoroughbred foal. Perosomus elumbis represents a rare congenital anomaly characterized by aplasia of the lumbosacral spinal cord and vertebrae. This anomaly is often associated with arthrogryposis and malformations of the urogenital and intestinal tract. This report describes the first case of perosomus elumbis in an aborted Thoroughbred foal associated with cerebral aplasia with meningocele, cranioschisis, spina bifida, a fused urogenital and intestinal tracts lined by a cutaneous mucosa without uterine glands, atresia ani, and arthrogryposis of the hind legs. Immunohistochemistry detected no abnormalities in ...
Genetics of swayback in American Saddlebred horses. Extreme lordosis, also called swayback, lowback or softback, can occur as a congenital trait or as a degenerative trait associated with ageing. In this study, the hereditary aspect of congenital swayback was investigated using whole genome association studies of 20 affected and 20 unaffected American Saddlebred (ASB) Horses for 48,165 single-nucleotide polymorphisms (SNPs). A statistically significant association was identified on ECA20 (corrected P=0.017) for SNP BIEC2-532523. Of the 20 affected horses, 17 were homozygous for this SNP when compared to seven homozygotes among the unaffected ho...
Imaging diagnosis–nasal septal and laryngeal cyst-like malformationsin a Thoroughbred weanling colt diagnosed using ultrasonography and magnetic resonance imaging. A foal was examined for abnormal upper airway noise. Endoscopically, there were narrowed nasal passages and an extralumenal mass of the cranial trachea. Using ultrasonography and magnetic resonance (MR) imaging of the larynx and cranial cervical trachea, irregular margins of the laryngeal cartilages and first tracheal ring containing areas consistent with fluid were identified. In MR images, a widened nasal septum was seen that contained material consistent with fluid. Postmortem examination confirmed the diagnosis of nasal septal, laryngeal, and cranial cervical tracheal cyst-like lesions. Th...
Posterior segment diseases. Diseases of the vitreous, fundus and optic nerve are described and illustrated according to their ophthalmological appearance. Vitreal alterations are commonly of developmental, degenerative, age related, traumatic or inflammatory origin and of minor clinical relevance. In contrast, those affecting the fundus, may be accompanied by visual deficits or blindness. Fundic lesions of inflammatory (multifocal or peripapillary chorioretinitis, haemorrhage, retinal detachment) and traumatic origin have to be differentiated from congenital (congenital stationary night blindness, colobomatous defects, r...
Doppler echocardiographic description of double-inlet left ventricle in an Arabian horse. Univentricular atrioventricular (AV) connections are rare and complex congenital cardiac anomalies in which both AV valves communicate into a large, common (single) receiving chamber. The common chamber can be of left, right, or mixed ventricular morphology. Although well documented in people, reports of the double-inlet ventricle malformation are rare in the veterinary literature. This report provides description of an Arabian horse with a double-inlet univentricular connection of left ventricular type, a hypoplastic subpulmonary right ventricle, two muscular ventricular septal defects, and a...
Meckel’s diverticulum as a cause of colic: 2 cases with different morphological features. Persistent Meckel's diverticulum is an uncommon embryonic developmental anomaly of the distal small intestine created by a portion of the vitelline duct adjacent to intestine that remains patent. This portion can form a diverticulum (Meckel's diverticulum) or a fibrous band, called vitelloumbilical band, and can be associated with colic after local impaction or strangulation of the small intestine around the remnant. This report describes two cases of Meckel's diverticulum with different morphological features in older horses. This congenital disorder should be considered as a reason for abdom...
Congenital cardiac defects in neonatal foals: 18 cases (1992-2007). Literature available regarding congenital cardiac defects in foals is limited to reports of individual cases or small case series. Objective: To describe the clinical, echocardiographic, and necropsy findings and breed predilection of congenital cardiac defects in neonatal foals. Methods: Eighteen foals < 15 days of age with 1 or more congenital cardiac defects. Methods: Medical records of foals diagnosed with congenital cardiac defects at the William R. Pritchard Veterinary Medical Teaching Hospital were reviewed. Data collected included history, signalment, clinical signs, laboratory data, d...
Causes of disease and death from birth to 12 months of age in the Thoroughbred horse in Ireland. A retrospective study was carried out to investigate the causes of disease and death in a population of foals in Ireland during their first 12 months post partum. Foaling and veterinary records from 343 foals on four farms born between January 1, 2004 and May 30, 2008 were reviewed. Among 343 foals, 22 did not survive to 12 months of age. Over the five-year period, the incidence of stillbirth was 1.5% (5/343), mortality 5% (17/338) and overall morbidity was 88.5% (299/338). Morbidity was calculated to include all new conditions brought to the attention of the attending veterinary surgeon, no m...
Bronchogenic and esophageal cyst with laryngeal malformations in a thoroughbred foal. This report documents an unusual case of congenital foregut cyst with dysphagia and stridor in a Thoroughbred foal. Histologically, the bilocular cyst, near the junction of larynx and trachea, had an epithelial lining of bronchogenic and esophageal origin. Concomitant malformation of the laryngeal muscles and cartilage resulted in a combination of anomalies that have not been reported in the human or veterinary literature.
Polypropylene mesh repair of a unilateral, congenital hernia in the inguinal region in a Thoroughbred filly. A 2-day-old Thoroughbred intact female was presented for a large subcutaneous swelling in the right inguinal region. Surgical repair was performed using a double layer polypropylene mesh. To the authors' knowledge, there have been no previous reports of surgical repair of congenital body wall hernias with polypropylene mesh in foals. Une femelle pur sang intacte âgée de deux jours est présentée pour de l’enflure sous-cutanée importante dans la région inguinale droite. Une réparation chirurgicale est réalisée en utilisant une double couche de maille de polypropylène. À la connaiss...
Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses. This abstract gives a critique of a research study on ocular anomalies in Rocky and Kentucky Mountain Horses. The author identifies various flaws in the study, arguing that poor sample […]
Double-outlet right ventricle in a 10-month-old Friesian filly. A 10-month-old Friesian filly had a presentation that was consistent with chronic left- and right-sided congestive heart failure. Clinical pathology findings included abnormal haematological and biochemical variables, abnormal blood gas values and increased serum concentration of cardiac troponin I. Echocardiography revealed cardiac chamber dilation and dextropositioning of the aorta. Radiography revealed a generally enlarged heart and pulmonary interstitial infiltration. These findings were supported at necropsy and the diagnosis of double-outlet right ventricle was confirmed. The pathologica...
Semen characteristics in a sub-fertile Arabian stallion with idiopathic teratospermia. A 5-year-old Arabian stallion was managed for breeding with fresh/extended semen during a period of 8 months with a resulting per cycle pregnancy rate of 26.3%. The stallion was in good health and no abnormalities of the reproductive tract were observed. Evaluation of several ejaculates revealed that sperm production and semen quality were mostly unchanged during the period of evaluation, that sperm production was normal and that semen quality was extremely poor. The most prevalent sperm defects were abnormal heads and mid-pieces. Most abnormal heads were microcephalic and/or tapered and consi...
Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6. Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome consists of a diverse set of abnormalities predominantly localized to the frontal part of the eye. The disease is in agreement with a codominant mode of inheritance in our horse material. Animals presumed to be heterozygous for the mutant allele have cysts originating from the temporal ciliary body, peripheral retina and/or iris. In contrast, animals predicted to be homozygous for the disease-causing allele possess a wide range of multiple abnormalities, including iridociliary and/or peripheral retinal cysts, iridocorneal angle abnorm...
Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in Canada. Multiple congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in Canada are frequently diagnosed with biomicroscopic and indirect ophthalmoscopic examination. In order of frequency detected, these include temporal ciliary epithelial cysts; iridal hypoplasia; prominent corneas; focal temporal retinal degeneration related to ciliary cysts; and, rarely, retinal detachment. A pedigree analysis confirms a dominant mode of inheritance with incomplete penetrance and with a linkage to coat color. Des anomalies oculaires congénitales multiples chez des chevaux Rock...
Equine clinical cytogenetics: the past and future. Cytogenetic analyses of horses have benefited the horse industry by identifying chromosomal aberrations causing congenital abnormalities, embryonic loss and infertility. Technical advances in cytogenetics enabled the identification of chromosome specific aberrations. More recently, advances in genomic tools have been used to more precisely define chromosome abnormalities. In this report we review the history of equine clinical cytogenetics, identify historical landmarks for equine clinical cytogenetics, discuss how the current use of genomic tools has benefited this area, and how future genomi...
Phenotypic diagnosis of dwarfism in six Friesian horses. An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses. Within the Friesian horse breed, congenital dwarfism has been recognised for many years, but no detailed report exists on its phenotype. The most salient feature of the dwarf syndrome is the physeal growth retardation in both limbs and ribs. Affected animals have approximately 25% shorter fore- and hindlimbs and approximately 50% reduced bodyweight. Postnatal growth is still possible in these animals, albeit at a slower rate: the head and back grow faster than t...
Surgical correction of wry nose in four horses. To describe surgical techniques used for correction of congenital nasal deviation (wry nose) in horses (wry nose) and to report outcome. Methods: Retrospective study. Methods: Horses (n=4), 5-17 months old with wry nose. Methods: Nasal deviation was corrected by transecting the premaxillae/maxillae and nasal bones at their site of maximum curvature and realigning and stabilizing the bones in a more normal alignment using internal fixation. The nasal septum was removed during the same anesthetic period. Results: For each horse, physical appearance was improved and respiratory stridor eliminated...
Ventral meningomyelocele in a German warmblood foal. A ventral meningomyelocele was found in a five week old, male German warmblood foal which exhibited central nervous symptoms. This rare malformation in horses may be caused by absent or defective fusion of vertebral bodies leading to herniation of the spinal cord and meninges with subsequent degenerative alterations of the spinal cord.
Congenital anomalies of the equine urinary tract. Congenital anomalies of the urinary tract in horses may be difficult to diagnose and treat. Presenting complaints are variable and include weight loss, depression, dysuria, hematuria, and mild colic. Although the most severe abnormalities are diagnosed in the neonate, some diseases, such as ectopic ureter(s), may be identified in older horses. In human medicine, the fetus is examined in the prenatal period for evidence of urinary tract dysfunction, but this is not yet common practice in equine medicine. As a result, urinary tract anomalies are diagnosed after birth using a wide variety of diag...
Multiple generalized follicular cysts in a stallion. This case report describes a case of multiple follicular cysts in a 4-year-old Spanish purebred stallion. The lesions ranged in size from 0.5 to 3 cm in diameter, and were firm, well circumscribed and nonpruritic. They developed over a 2-year period with a generalized distribution affecting all body regions. Five nodules were removed and histopathologically corresponded to simple epidermal cysts (infundibular and isthmus-catagen) with squamous epithelium and a keratin filled cavity. Lesions were not evident at birth but their number, early age of detection, slow growth and lack of previous tra...
Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. To determine the prevalence of congenital stationary night blindness (CSNB) in Appaloosa horses in western Canada, investigate the association with the leopard complex of white spotting patterns, and further characterize the clinical and electroretinographic aspects of CSNB in the Appaloosa. Methods: Three groups of 10 Appaloosas were studied based on coat patterns suggestive of LpLp, Lplp, and lplp genotype. Methods: Neurophthalmic examination, slit-lamp biomicroscopy, indirect ophthalmoscopy, measurement of corneal diameter, streak retinoscopy, scotopic and photopic full-field and flicker ER...
Step ostectomy as a treatment for varus deformity of a metatarsophalangeal joint in a 4.5-month-old colt. A 4.5-month-old quarter horse colt was presented with severe right hind metatarsophalangeal varus, present since birth. On radiographs, it was determined that there was a 16 degree deviation with the pivot point at the distal physis of the 3rd metatarsal bone. A step ostectomy in the sagittal plane corrected the deformity. Un poulain Quarter horse âgé de 4,5 mois a été présenté pour une difformité congénitale métatarsophalangienne varus du membre postérieur droit. Une déviation de 16° par rapport au point de pivotement au niveau de la plaque de croissance distale du 3 métatarse a...
Bilateral Polydactyly in a foal. The following case report describes the diagnosis and surgery of bilateral polydactyly of unknown origin in a colt. A 7-month-old Berber colt was referred for cosmetic and curative excision of supernumerary digits. Radiographic examination revealed bilateral polydactyly and welldeveloped first carpal bones. Surgery consisted of an osteotomy of both second metacarpal bones combined with an amputation of the supernumerary digits. The follow-up at 18 months after surgery revealed a sound horse with an excellent cosmetic outcome.