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.
Transcriptomic Analysis of Testicular Gene Expression in Normal and Cryptorchid Horses. Testes produce sperm, and investigations into gene expression in the testes will enhance the understanding of the roles of testicular genes in male reproduction. Cryptorchidism, the failure of one or both testes to descend into the scrotal sac, is a common congenital malformation in horses. The major clinical consequence of this abnormality is impaired fertility. The aim of this study was to analyze the expression patterns of testicular genes and to identify the differentially expressed genes (DEGs) in testes between cryptorchid and normal horses. In this study, the gene expression patterns in...
Correcting Campylorrhinus Lateralis in a Foal by Bone Distraction: A Case Report. Campylorrhinus lateralis, also known as "wry nose," is a congenital malformation that mainly affects Thoroughbreds. These horses have a unilateral deviation of the maxillae that may be to one side or the other side, and it causes airway obstruction and dental malocclusion. The choice of treatment is not necessarily operation; however, the treatment of choice, which aims to repair the maxillae deviation, is surgical to improve the horse's respiratory condition and correct the dental occlusion. There are currently no reports describing the first surgical technique for such deformity described by...
Cephalometric Study of the Overjet Development in Warmblood Foals. Class II malocclusion is the most frequently occurring congenital malocclusion in horses. Radiographic cephalometric procedures adopted from human dentistry were used to study the development of overjet in a population of 650 Warmblood foals. Thirteen foals were diagnosed with measurable overjet at the beginning of the study. The malocclusion in nine foals resolved spontaneously and four foals without overjet at 2 weeks of age developed the condition during the first year of life. A cephalostat used in human orthodontics to immobilize the patient's head while being radiographed was replaced by...
Effect of inbreeding on the “Club Foot” disorder in Arabian Pureblood horses reared in Italy. "The Club Foot" (or "Mismatched Foot") is an acquired or congenital flexural deformity of the distal interphalangeal joint, caused by a shortening of the musculotendinous unit of the deep digital flexor tendon. The aim of this research was to detect the incidence of the disorder in Arabian Pureblood horses, attempting to understand its causes and to analyze a possible role of inbreeding in its expression. In this breed, in fact, the pathology is widespread because in the environment of origin, the rocky desert, a hard and almost goat's hoof is not disabling so the selection against this disord...
Computed tomography angiography of a congenital extrahepatic splenocaval shunt in a foal. Congenital portosystemic shunts in foals are rare and only a small number of cases have been described. Detailed description of the course of the shunt is lacking in earlier reports. This is the first detailed description of a computed tomography angiography (CTA) displaying an extra-hepatic splenocaval shunt. A 1-month old colt showing increasing signs of dullness, ataxia, circling, lip-smacking and coordination problems was presented. Hyperammonemia was detected and abdominal CTA revealed an extra-hepatic portocaval shunt. During surgery, ligation of the abnormal vessel could not be achieved...
Schwannosis in Three Foals and a Calf. Proliferation of ectopic Schwann cells within the central nervous system (CNS) parenchyma (schwannosis) in early life is most commonly associated with human neurofibromatosis type-2 and has been unrecognized in domestic animals. Three foals and a calf, 5 to 11 weeks old, with progressive neurological signs from birth were studied. Histologically, at multiple levels of the spinal cord, all animals had bilateral plaques of proliferative spindle cells, predominantly affecting the white matter adjacent to dorsal and ventral nerve roots and variably extending into the gray matter. Proliferating cel...
Equine Congenital Heart Disease. Congenital heart disease (CHD) represents a small proportion of horses undergoing clinical evaluation; however, both simple and complex defects occur during cardiac development leading to many unique malformations. This article reviews cardiac development and the fetal circulation, describes the morphologic method and the sequential segmental approach to CHD analysis, presents a summary of CHD in horses, and offers an overview of lesions that should be considered during evaluation of horses suspected to have CHD. For many forms of equine CHD, therapies are limited because cardiac interventions...
Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2. Congenital hydrocephalus has been reported for a number of horse breeds, and for Friesian horses this condition has been associated with a nonsense mutation of B3GALNT2. We report the first case of congenital hydrocephalus associated with the said mutation in a Belgian draft horse. Genetic testing and consideration of the testing results in breeding programs are warranted. Hydrocéphalie congénitale chez un cheval de trait Belge associée à une mutation non-sens de B3GALNT2. L’hydrocéphalie congénitale a été signalée pour plusieurs races de chevaux et, pour les chevaux Frisons, cette ...
Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations. A 1-month-old Purebred Spanish Horse (PSH) foal presented with progressive hepatic failure culminating in death. Hepatic lesions were consistent with congenital hepatic fibrosis (CHF). Genetic studies in the PKHD1 gene in the affected foal revealed that it was heterozygous for the 2 previously described single-nucleotide polymorphisms (SNPs) linked to CHF in Swiss Franches-Montagnes (SFM) horses. In addition, 2 novel mutations were detected, the foal being homozygous for one of them and heterozygous for the other. Genetic studies in a healthy PSH population ( n = 35) showed a 3-fold higher gen...
Double outlet right ventricle with subpulmonary ventricular septal defect (Taussig-Bing anomaly) and other complex congenital cardiac malformations in an American Quarter Horse foal. A 4-week-old American Quarter Horse colt presented with a recent history of diarrhea and decreased activity level. On initial physical examination, the animal was bright and alert and major findings were limited to a loud systolic heart murmur radiating widely over both sides of the thorax. While in the hospital, the clinical condition of the foal warranted further imaging to determine the cause and extent of cardiac disease. A variety of congenital cardiac malformations were identified during echocardiographic examination and autopsy, including a double outlet right ventricle and a subpulmona...
Equine Glaucoma. Glaucoma is a multifactorial neurodegenerative ocular disease leading to progressive loss of retinal ganglion cells and their axons that form the optic nerve, causing blindness. Knowledge of the pathogenesis and development of equine glaucoma is in its infancy compared with human glaucoma. Glaucoma occurs most commonly secondary to uveitis and may be underdiagnosed or misdiagnosed in horses suffering from uveitis. Recognition and clinical diagnosis of glaucoma in the horse is improved with clinician awareness and the availability of handheld tonometers. Therapy for glaucoma is aimed at decreas...
Atlanto-axial malformation in an adult Quarter horse gelding. An adult gelding was evaluated for bilateral intermittent forelimb lameness of approximately 2 years duration. The horse was found to have grade 2/5 upper motor neuron-general proprioception ataxia with no cranial nerve deficits. During radiographic and gross necropsy examinations a novel atlanto-axial malformation of possible congenital etiology was found. Un hongre adulte a été évalué pour une boiterie intermittente de la jambe avant présente depuis environ 2 ans. On a constaté que le cheval avait une ataxie de proprioception générale des motoneurones supérieurs de grade 2/5 sans d...
Flexural Deformity of the Distal Interphalangeal Joint. Flexural deformities in young horses are commonly referred to as contracted tendons, which is a term that is not consistent with what is currently understood about their cause. Flexural deformity of the distal interphalangeal joint can be either congenital (present at birth) or acquired (develop at a later stage of growth typically between 1 and 6 months of age). These 2 manifestations are commonly managed differently depending on the cause, age of onset, severity, duration, complicating factors, and owner expectations. Early recognition and appropriate intervention are essential to ensure th...
The refractive state of the eye in Icelandic horses with the Silver mutation. The syndrome Multiple Congenital Ocular Anomalies (MCOA) is a congenital eye disorder in horses. Both the MCOA syndrome and the Silver coat colour in horses are caused by the same missense mutation in the premelanosome protein (PMEL) gene. Horses homozygous for the Silver mutation (TT) are affected by multiple ocular defects causing visual impairment or blindness. Horses heterozygous for the Silver mutation (CT) have less severe clinical signs, usually cysts arising from the ciliary body iris or retina temporally. It is still unknown if the vision is impaired in horses heterozygous for the Sil...
Flexural Limb Deformities of the Carpus and Fetlock in Foals. Early recognition and treatment of congenital and acquired flexural deformities of the carpi and fetlocks of foals can lead to conformation correction and an athletic future. Treatment is often based on rigid external coaptation assisted by systemic medical treatment. Foals that readily respond to treatment and correct conformation faults can have normal adult athletic expectations.
[Congenital goiter in the neonatal foal. Two case reports. Zwei Fallberichte]. Two cases of an innate hyperplastic goiter in foals as well as the sonographic evaluation of the hyperplastic gland are presented. One foal displayed skeletal deformities in the form of a mandibular prognathism and forelimb contractures in addition to the swollen thyroid gland. Because of a poor prognosis, the animal was euthanized. The second foal was premature and displayed respiratory signs. Under symptomatic therapy, the goiter regressed within a few weeks.
Bilateral oblique facial clefts, rudimentary eyes and hydrocephalus in an aborted equine foetus. Knowledge of congenital malformations and their causes in horses is generally sparse. Such conditions require more scientific attention to improve their diagnostics and inform prevention strategies. Here, a unique syndrome of bilateral oblique facial clefts (meloschisis), rudimentary eyes and hydrocephalus is reported in an equine foetus spontaneously aborted at gestation day 224. The cause of abortion was considered to be intrauterine death caused by umbilical cord torsions and subsequent compromised blood flow, but the aetiology of the malformation could not be determined. A detailed history...
Deletion of 2.7 kb near HOXD3 in an Arabian horse with occipitoatlantoaxial malformation. In the horse, the term occipitoatlantoaxial malformation (OAAM) is used to describe a developmental defect in which the first cervical vertebra (atlas) resembles the base of the skull (occiput) and the second cervical vertebra (axis) resembles the atlas. Affected individuals demonstrate an abnormal posture and varying degrees of ataxia. The homeobox (HOX) gene cluster is involved in the development of both the axial and appendicular skeleton. Hoxd3-null mice demonstrate a strikingly similar phenotype to Arabian foals with OAAM. Whole-genome sequencing was performed in an OAAM-affected horse (O...
Multiple congenital cardiovascular defects including type IV persistent truncus arteriosus in a Shetland pony – Short communication. This case report describes the pathological findings of multiple congenital cardiac defects in a 2-year-old female Shetland pony with clinical signs of chronic respiratory distress. Persistent truncus arteriosus (PTA) type IV, interventricular septal defect, overriding aorta, pulmonary trunk agenesis, pulmonary arteries arising from the descending aorta, and compensatory right ventricular hypertrophy were observed.
Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness. Congenital stationary night-blindness (CSNB) is a recessive autosomal defect in low-light vision in Appaloosa and other horse breeds. This condition has been mapped by linkage analysis to a gene coding for the Transient Receptor Potential cation channel Member 1 (TRPM1). TRPM1 is normally expressed in the ON-bipolar cells of the inner nuclear layer of the retina. Down-regulation of TRPM1 expression in CSNB results from a transposon-like insertion in intron 1 of the TRPM1 gene. Stop transcription signals in this transposon significantly reduce TRPM1 primary transcript levels in CSNB horses. Thi...
Pulmonary atresia with intact ventricular septum and hypoplastic right ventricle in an Arabian foal. Pulmonary atresia with intact ventricular septum, rudimentary tricuspid valve, hypoplastic right ventricle, and right-to-left atrial shunting were identified in a four-day-old, male Arabian foal with clinical signs of cyanotic heart disease. Pulmonary blood flow was apparently derived from a ductus arteriosus. Echocardiographic evaluation revealed the majority of cardiac abnormalities and also findings compatible with right-sided congestive heart failure. Congenital cardiac defects have a high incidence in this breed, and this is the first description of this combination of congenital cardiac ...
Extrinsic innervation of ileum and pelvic flexure of foals with ileocolonic aganglionosis. Equine ileocolonic aganglionosis, which is also called lethal white foal syndrome (LWFS), is a severe congenital condition characterized by the unsuccessful colonization of neural crest progenitors in the caudal part of the small intestine and the entire large intestine. LWFS, which is attributable to a mutation in the endothelin receptor B gene, is the horse equivalent of Hirschsprung's disease in humans. Affected foals suffer from aganglionosis or hypoganglionosis of the enteric ganglia resulting in intestinal akinesia and colic. In other species with aganglionosis, fibers of extrinsic origi...
Organogenesis of the Musculoskeletal System in Horse Embryos and Early Fetuses. Musculoskeletal system development involves heterotypical inductive interactions between tendons, muscles, and cartilage and knowledge on organogenesis is required for clarification of its function. The aim of this study was to describe the organogenesis of horse musculoskeletal system between 21 and 105 days of gestation, using detailed macroscopic and histological analyses focusing on essential developmental steps. At day 21 of gestation the skin was translucid, but epithelial condensation and fibrocartilaginous tissues were observed on day 25 of pregnancy. Smooth muscle was seen in lymphat...
Campylorrhinus lateralis, Bilateral microphthalmia and odontoma temporalis in an Oldenburg Foal. An Oldenburg colt with wry nose was autopsied after having lived for only 30 min. It presented cyanotic oral mucosae, underdeveloped eyes and a right-sided temporal osseous mass. The applicable nomenclature for the defects is discussed, and the potential etiopathogenesis is explored by describing the normal embryonic development of the affected body parts.
Congenital diaphragmatic hernia with concurrent aplasia of the pericardium in a foal. In veterinary medicine congenital abnormalities of the diaphragm and pericardium are rare, idiopathic malformations, being reported mainly in dogs. This report documents an unusual case of developmental defects in a foal consisting of diaphragmatic hernia concurrent with pericardial aplasia. Methods: Following a normal delivery, a full term, female Friesian stillborn foal with the placenta was presented for necropsy. External morphological examination indicated a normally developed foal. At necropsy, a large oval defect (approximately 20 × 15 cm in size) was observed in the left-dorsal si...
The Normal and Abnormal Equine Neonatal Musculoskeletal System. The first weeks of life are critical in many aspects, and the musculoskeletal system is no exception. Being able to stand and nurse within hours of life is necessary for survival. Laxity, flexural deformities, and skeletal immaturity can all make it difficult for neonates to ambulate. The increased vascularity to bones and cartilage mixed with the newly forming immune system also make neonates susceptible to infections that we rarely see in adult animals. This article concentrates on orthopedic conditions seen in the first 2 weeks of life.
The Equine Neonatal Cardiovascular System in Health and Disease. The neonatal foal is in a transitional state from prenatal to postnatal circulation. Healthy newborn foals often have cardiac murmurs and dysrhythmias, which are usually transient and of little clinical significance. The neonatal foal is prone to infection and cardiac trauma. Echocardiography is the main tool used for valuation of the cardiovascular system. With prompt identification and appropriate action, dysrhythmias and other sequel to cardiac trauma can be corrected. With infection, the management and prognosis are driven by concurrent sepsis. Congenital disease represents an interesting ...
Visual expertise for horses in a case of congenital prosopagnosia. A major question in the domain of face perception is whether faces comprise a distinct visual category that is processed by specialized mechanisms, or whether face processing merely represents an extreme case of visual expertise. Here, we examined O.H, a 22 years old woman with congenital prosopagnosia (CP), who despite her severe deficits in face processing, acquired superior recognition skills for horses. To compare the nature of face and horse processing, we utilised the inversion manipulation, known to disproportionally affect faces compared to other objects, with both faces and horses. O....
Permanent Lateral Deviation and Stenosis of the Cervix in an Infertile Jennet. Congenital abnormalities of the uterus and the cervix are rare in horses, often associated with infertility, despite normal ovarian activity and sexual behaviour. An abnormality of the cervix in a 5-year-old jennet with a history of infertility was described. Clinical and ultrasound examination of the genital tract showed a normal development of the uterus with regular cyclic activity in both the ovaries. Vaginoscopy revealed a normal development of the vagina and a cervix deviated on the left side of the vagina by a thick dorsoventral fold. The lateral deviation was permanent in any stage of ...
Bilateral renal dysplasia, hydronephrosis, and hydroureter in a septic neonatal foal. A Canadian warmblood foal treated for septic polyarthritis was diagnosed with bilateral congenital renal dysplasia, hydronephrosis, and hydroureter at 2 weeks of age based on abdominal ultrasound and postmortem examination. Intermittent abdominal pain throughout the course of treatment was attributed to hydronephrosis and hydroureter. Un poulain Warmblood canadien traité pour une polyarthrite septique a été diagnostiqué avec de la dysplasie rénale congénitale bilatérale, de l’hydronéphrose et de l’urétérohydrose à l’âge de 2 semaines en se fondant sur une échographie abdomi...