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.
Cryptophthalmia, microphthalmia, oronasal malformation, and hydrocephalus in an aborted equine fetus with umbilical torsion in the state of Mato Grosso, Brazil. Facial abnormalities and brain defects in aborted equine fetuses are rarely reported, and the causes that predispose the occurrence of this condition are difficult to identify. This work reports the morphological and tomographic findings of a case of cryptophthalmia, microphthalmia, oronasal malformation, and hydrocephalus in an aborted equine fetus with umbilical cord torsion in the state of Mato Grosso, Brazil, from a primiparous Quarter Horse female, with 7 months of gestational age. The occurrence of miscarriage was associated with compromised maternal-fetal blood flow due to umbilical cor...
Fragile foal syndrome: manifestations, heterozygous advantage and the future of breeding policies. Scientific interest in relation to Fragile Foal Syndrome (FFS) has proliferated in the last decade, but before this, many clinical cases were attributed to other similarly presenting equine neonatal disorders. It was thought that FFS-affected foals were mainly miscarried throughout gestation, but recent study results suggest that often, foals are born alive and die shortly after birth. FFS is proposed to have originated as long ago as the Godolphin Arabian, but the definite derivation of the mutant allele is unconfirmed. The discovery that FFS is present in 11-30% of Warmbloods and 2-3% of Tho...
[Equine laryngeal dysplasia – overview of variable clinical presentation based on 6 cases]. Equine laryngeal dysplasia (ELD) is the umbrella term for various malformations of laryngeal structures that arise from the 4th and 6th branchial arches during embryogenesis. The disease is rare and may be subclinical. In symptomatic patients with clinical signs, the clinical presentation is highly variable and is the result of functional limitations of the larynx as well as of the esophageal sphincter. The spectrum of signs may range from respiratory changes such as abnormal respiratory noise, coughing, and at times dyspnea all the way to poor performance, dysphagia, aerophagia, and colic. Th...
Congenital Cervical Vertebral and Spinal Cord Anomalies. Congenital cervical vertebral anomalies in horses are structural changes in the neck vertebrae that develop during the fetal stage. These anomalies can vary in their severity and effects. Some horses may not show any clinical signs and can live normally, while others may develop serious problems such as spinal cord compression. This compression can lead to issues like ataxia or even paralysis, affecting the horse's mobility and quality of life. Recognizing and diagnosing these anomalies early are very important, as it helps guide decisions about the best treatment options and overall managemen...
Congenital malformations of the thoracic vertebral column in a mature competition pony. Thoracolumbar congenital abnormalities are considered rare in mature, performing horses. This case report describes a 14-year-old Welsh pony presented with marked epaxial muscle atrophy, mid-thoracic spinal pain, and stiffness, most pronounced during canter. The thoracic spine exhibited scoliosis, centered at T9-T10, and kyphosis. Radiography and postmortem computed tomography revealed complex congenital malformations of the thoracic vertebral column, including abnormal morphology of the T10-T12 vertebral bodies, partial vertebral fusion, a malformed spinous process, a malformed rib with assoc...
Infertility in an American Quarter Horse mare with cervical duplication. Cervical duplication is a disorder of sexual development (DSD) that may be present in the absence of chromosomal aberrations. It is a rare cause of infertility in mares and is attributed to the failure of the Müllerian ducts to fuse properly, leading to the persistence of the median walls along the whole length of the cervix. This case report involves a 13-year-old American Quarter Horse mare with cervical duplication. Prior to this diagnostic, the mare was bred multiple times, but pregnancy was not achieved. The mare presented for a breeding soundness evaluation. During the examination an ab...
A Unique Case of Mosaicism for Two Robertsonian Translocations, rob(17;27) and rob(17;29), in a Subfertile Mare (Equus caballus ). Robertsonian translocations (ROBs) or centric fusions of acrocentric chromosomes are the most common structural chromosomal rearrangements in mammals. ROBs are of medical and veterinary concern because of associated subfertility and congenital disorders but are also of interest as a mechanism of chromosome and karyotype evolution. While ROBs are well documented in humans, mice, and cattle/bovids, they are extremely rare in horses, despite the 18 acrocentric chromosomes in the horse karyotype. Methods: We characterize the case using conventional and molecular cytogenetic approaches and DNA anal...
Surveillance of a PLOD gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies. The Silesian horse is a heavy warmblood breed developed in Polish Silesia through the covering of local mares by East Frisian and Oldenburg stallions. Because of its historical significance and genetic heritage, the breed is part of a conservation programme in Poland. One of the genetic disorders of concern in warmblood horses is fragile foal syndrome (FFS), an autosomal recessive disease caused by a mutation in the gene (c.2032G>A). Affected foals either perish in late pregnancy or are born with severe connective tissue abnormalities, leading to early death. As carriers do not exhibit sympto...
A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse. Although several inherited ocular disorders have been extensively studied in horses, few reports of equine ectopia lentis exist and no genetic investigations have been reported. Ectopia lentis in humans and other species is reported to be caused by trauma, genetic variants, and systemic diseases. The most commonly reported genetic causes are dominant alleles in FBN1. Here we examined a 3-day old Oldenburg x Thoroughbred colt due to concerns over bilateral ocular anomalies and hypothesized that either a recessively inherited allele or a dominant de novo allele was the genetic cause. Examination...
Computed Tomography Angiography Diagnosis of a Congenital Intrahepatic Central Divisional Portocaval Shunt in an Arabian Filly. A 1-month-old Arabian filly presented for central neurologic signs that developed shortly after birth. Hyperammonemia and elevated bile acids were identified, prompting abdominal computed tomography angiography (CTA) evaluation on suspicion of congenital portosystemic shunting (PSS). CTA revealed an anomalous vessel connecting the intrahepatic central divisional portal branch and caudal vena cava, with microhepatica and bilateral renomegaly. Necropsy confirmed a single, congenital, and intrahepatic central divisional portocaval shunt. Imaging literature addressing PSS in foals is sparse, with ...
Retrospective Evaluation of Cryptorchid Sidedness at Colorado State University Between 1984 and 2014 and Oakridge Equine Hospital Between 2008 and 2023. Cryptorchidism is a common congenital disorder in male horses characterized by the failure of one or both testes to descend into the scrotum. This developmental anomaly has important clinical, surgical, and economic implications, particularly in breeding animals. This retrospective study investigates the prevalence and laterality of cryptorchidism in a large equine population presented to two veterinary referral hospitals-Colorado State University Veterinary Teaching Hospital (CSU VTH, 1984-2014) and Oakridge Equine Hospital (OEH, 2008-2023). Medical records were reviewed to identify affected ...
Imaging Findings of Congenital Distal Interphalangeal Joint Dysplasia in a 3-Month-Old Friesian Foal. A 3-month-old Friesian colt presented with severe, progressive distal limb lameness in two limbs. Radiographic and postmortem full-body CT imaging revealed severe articular deforming osteolysis and osteoproliferation at the dorsodistal navicular bone margin and the adjacent distal phalanx proximo-palmar/proximo-plantar margin in two limbs, with the remainder of the distal interphalangeal joint being unaffected. Multiple other joints showed small osteolytic subchondral defects. Postmortem histopathological examination confirmed focal joint disease of both distal interphalangeal joints, without ...
Bilateral intraocular choristoma in a 2-day-old foal. A 2-d-old Warmblood colt was submitted for autopsy with a spectrum of bilateral ocular abnormalities. At postmortem examination, a constellation of lesions within the anterior segment included retention of ectodermal elements, compatible with choristoma. Ocular choristomas can be localized to different intraocular structures and are rare in equids. The morphologic features in our case were suggestive of abnormal corneal differentiation.
Preoperative computed tomography imaging for accurate diagnosis and surgical planning in equine cranial disorders: two case reports of congenital malformations. Computed tomography (CT) offers high-resolution, three-dimensional imaging, making it particularly valuable for assessing complex structures, such as the head, especially when conventional radiography and endoscopy are insufficient for a definitive diagnosis. Herein, we present two cases of equine cranial disorders resulting from congenital malformations. In case 1, which had a dentigerous cyst, CT images confirmed the location of the ectopic tooth within the skull and a detailed fistula tube. In case 2, which had temporohyoid osteoarthropathy, CT examination revealed that the stylohyoid bone ...
Diagnosis and treatment of a congenital cervical tracheal diverticulum in an Arabian foal. Tracheal congenital defects are infrequent but serious findings in animals. Tracheal diverticula are congenital air-filled cystic lesions, a sub-type of paratracheal air cyst mainly found extra-thoracically in foals. We describe a case in a twelve-day old show Arabian colt with right sided unilateral cervical swelling since birth. Percutaneous ultrasound revealed a heterogeneously air- and fluid-filled spheroid mass, and upper airway endoscopy confirmed luminal communication to the trachea. Contrasted computed tomography showed a narrow isthmus originating between two proximal tracheal rings a...
Genetic testing as a tool for diagnosis of congenital stationary night blindness (CSNB) in white spotted breeds in Poland. Congenital stationary night blindness (CSNB) has been connected to the leopard complex spotting phenotype (LP) in various horse breeds. CSNB associated with LP is thought to be caused by a 1378 bp insertion in TRPM1, with homozygotes being nightblind and having few to no spots of pigment in their white patterned area. This study aimed to assess the prevalence of CSNB alleles in tarant-colored horses in Poland through a three-primer system for an allele-specific Polymerase Chain Reaction (PCR). The TRPM1 gene insertion was genotyped in 221 horses belonging to Małopolska, Felin and Shetland Pon...
Cerebellar abiotrophy in a quarter horse foal. Cerebellar abiotrophy is a neurodegenerative disease that affects the Purkinje cells of the cerebellum, resulting in premature neuronal death. In horses, its occurrence has been reported mainly in the Arabian breed as a congenital mutation inherited in an autosomal recessive manner. The objective of this study was to describe the case of cerebellar abiotrophy in a Quarter Horse foal. An 8-day-old foal was treated after presenting signs of ataxia, hypermetria, difficulty maintaining a standing position, and decreased menace response. The foal was hospitalized for 26 days, received treatment wit...
Congenital myofibroblastic fibrosarcoma of the temporal bone in a newborn Arabian foal. Myofibroblastic fibrosarcoma (MFS) is a malignant soft tissue tumour that is rare in domestic animals. Here we report a case of congenital MFS in an Arabian foal at birth. A large solitary subcutaneous mass arising in the left temporal region was found in the foal. On cut section, an unencapsulated hemispheric, white-yellowish, elastic fibrous mass was attached to the temporal bone. Histologically, the mass was composed of a neoplastic proliferation of spindle-shaped fibroblasts arranged in fasciculate or interwoven streams and bundles, with low nuclear atypia and mitotic rate, local invasion ...
Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family. Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported. Objective: To characterise the phenotype of a non-syndromic pre-axial polydactyly in a horse family and to decipher the inheritance pattern. Methods: Retrospective study. Methods: Forty-three members of the family including a previously reported polydactyl case were recruited. Available clinica...
Immunodeficiencies in Foals. Knowledge of immunodeficiencies is crucial to neonatal medicine, in that they predispose to sepsis in the newborn and neonatal foal, as well as recurrent infections in older foals. The most common immunodeficiency in newborn and neonatal foals is failure of passive transfer, which is an example of an acquired immunodeficiency. Congenital or developmental immunodeficiencies may be transient or permanent, and can either affect the cell-mediated or humoral arms of immunity, and in some cases both. Affected foals often have chronic or recurrent respiratory or gastrointestinal infections, often wit...
Bilateral congenital cystic eye with intraocular tissue differentiation in a horse. Congenital cystic eye (CCE) is a rare congenital ocular disease, which has been suggested to be caused by problems with optic vesicle invagination. This is characterized by the formation of intraorbital cystic lesions lined by undifferentiated neuroepithelium. However, cases involving ocular structures with varying degrees of differentiation have also been reported as CCE in humans and animals. In horses, CCE have only been reported as a case presenting as neuroepithelial-lined cysts without the formation of ocular structures. This paper describes large bilateral intraorbital cysts in a 1-day-...
Hydroallantois in a mare associated with schistosomus and unilateral ovarian agenesis in the fetus. Hydropsical conditions in domestic animals are characterized by abnormal fluid accumulation. While their complete pathophysiology remains unclear, factors such as changes in chorioallantoic membranes, placentitis, or fetal abnormalities may contribute. Hydrops present as a medical emergency that can cause complications for the mare. Early diagnosis and treatment are crucial for the mare's prognosis, as fetal survival is often poor. This report describes a case of hydroallantois in a 9-year-old pregnant Quarter mare at 271 days of gestation, leading to dystocia of a non-viable foal with multipl...
Congenital urachal and urinary bladder defects leading to uroperitoneum in a neonatal quarter horse colt. A newborn (5 h old) quarter horse colt was presented because of lethargy and severe abdominal distention. Uroperitoneum was suspected during initial workup, based on sonographic imaging and peritoneal fluid analysis. Definitive diagnosis was confirmed during exploratory celiotomy. Surgery revealed a congenitally abnormal allantoic stalk/urachal remnant and a failure of embryological fusion of the dorsal bladder wall. Recovery was successful and the animal is now a healthy, 4-year-old western performance gelding. These specific congenital abnormalities have not been previously documented in the...
Grade IV gastric ulceration, pyloric aplasia, and an ectopic duodenal papilla in a 13-year-old Quarter Horse gelding evaluated for recurrent colic. The objective of this Case Report was to describe the clinical manifestation and postmortem findings of a horse evaluated for recurrent colic diagnosed with pyloric aplasia and an ectopic duodenal papilla. Methods: 13-year-old Quarter Horse gelding. Unassigned: The horse was presented to a referral center for signs of colic that were unresponsive to management on the farm. No abnormalities were noted on rectal palpation; however, upon passage of a nasogastric tube, 31 L of net gastric reflux was obtained. Gastroscopy noted grade IV squamous ulceration and moderate glandular ulceration, severe ...
Fetal rhabdomyoma in a Thoroughbred filly. A newborn Thoroughbred filly presented with a large mass located on the ventro-rostral aspect of the mandible. The mass was surgically removed under general anaesthesia. Upon gross examination, the mass was well circumscribed with a heterogeneous lobulated appearance. The results of histopathology and immunohistochemistry were consistent with a diagnosis of congenital fetal rhabdomyoma. On follow-up at six months post-surgical excision, no abnormalities were noted on clinical examination.
Congenital variants of the ventral laminae of the sixth and seventh cervical vertebrae are not associated with clinical signs or other radiological abnormalities of the cervicothoracic region in Warmblood horses. There is controversy about the clinical relevance of congenital variants of the ventral laminae of the sixth (C6) and seventh (C7) cervical vertebrae and their relationship with other radiological abnormalities. Objective: To document the prevalence of congenital variants of C6 and C7 and that of other radiological abnormalities from C6 to the second thoracic vertebra (T2). Methods: Cross-sectional. Methods: The study included Warmblood horses ≥3 years of age undergoing clinical assessment at two referral institutions: 127 control horses and 96 cases (neurologic, neck pain or stiffness, or...
Gestation length is associated with early-life limb deformities in Thoroughbred foals. Flexural and angular limb deformities (LD) are an important cause of early-life morbidity and mortality/euthanasia in Thoroughbred foals. The majority are congenital in origin but, to date, their precise aetiology is poorly understood. We hypothesised that maternal- and pregnancy-level factors, particularly those with potential to influence in-utero growth and development, could play an important role. The aim of this study was therefore to investigate associations between such factors and early-life LD in Thoroughbred foals. A birth cohort was established on seven farms across the United King...
Congenital, Inherited Bilateral Amastia in a Quarter Horse Mare. Congential amastia, a medical condition in which mammary tissue fails to develop, was detected in a 3-year-old Quarter Horse mare. The dam of the mare was also afflicted with amastia, suggesting that the condition was due to an inherited genetic mutation as noted in other species. In addition, on presentation the mare had a purulent vaginal discharge secondary to a pyometra.
Morphology of the Ventral Process of the Sixth Cervical Vertebra in Extinct and Extant Equus: Functional Implications. In this study, we examined the ventral process of C6 in extinct and extant (sister taxa to only) with the purpose of describing normal morphology and identifying anomalous variations relevant to recent studies describing a congenital malformation in . Overall, 83 specimens from 9 museums and 3 research/educational facilities were examined, totalling 71 extinct specimens from 12 species and 12 extant specimens from 5 species. The lateral view revealed that a large convexity exists in the ventral process between the cranial ventral tubercle (CrVT) and the caudal ventral tubercle (CVT) in the e...
Bilateral patellar aplasia in a foal. A 2-day-old Cleveland Bay colt was referred to the Equine Emergency Service of the Farm Animal and Equine Veterinary Medical Center at North Carolina State University's College of Veterinary Medicine for evaluation of decreased nursing behaviour and right hindlimb lameness of 2 days' duration. When assisted to stand, the foal was unable to extend either hindlimb or bear weight on the hindlimbs, the right patella was luxated laterally and unable to be reduced, and the foal assumed a crouched position. Stifle radiographs revealed minimal, heterogeneous, ill-defined ossification of both patellae....