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.
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. A full-term male foal born in a farm holidays in Maremma (Tuscany, Italy) was euthanized shortly after birth due to the presence of several malformations. The rostral maxilla and the nasal septum were deviated to the right (wry nose), and a severe cervico-thoracic scoliosis and anus atresia were evident. Necropsy revealed ileum atresia and agenesis of the right kidney. The brain showed an incomplete separation of the hemispheres of the rostral third of the forebrain and the olfactory bulbs and tracts were absent (olfactory aplasia). A diagnosis of semilobar holoprosencephaly (HPE) was achieved...
[Congenital foot abnormalities]. The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an ...
Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed. We performed a genome-wide association study with 5 cases and 12 controls and detected an association on chromosome 20. Subsequent homozygosity mapping defined a critical interval of 952 kb harboring 10 annotated genes and loci including the polycystic kidney and hepatic disease 1 (autosomal recessive) gene (PKHD1). PKHD1 represents an excellent functional candidate as variants in this gene were identified in human patients with autosoma...
Brainstem auditory evoked responses in an equine patient population: part I–adult horses. Brainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject. Objective: To describe BAER findings, common clinical signs, and causes of hearing loss in adult horses. Methods: Study group, 76 horses; control group, 8 horses. Methods: Retrospective. BAER records from the Clinical Neurophysiology Laboratory were reviewed from the years of 1982 to 2013. Peak latencies, amplitudes, and interpeak intervals were measured when visible. Horses were grouped under disease categories. Descriptive statistics and a posthoc Bonferroni test...
Bilateral diffuse cystic renal dysplasia in a 9-day-old Thoroughbred filly. A 9-day-old Thoroughbred filly was presented for diarrhea and lethargy. Diagnostic test results were compatible with severe renal dysfunction. Diffuse cystic lesions of both kidneys were identified on ultrasonographic examination. Postmortem examination confirmed the presence of multiple renal cysts. Congenital nephropathy compatible with bilateral diffuse cystic renal dysplasia was diagnosed. Une pouliche Thoroughbred âgée de 9 jours a été présentée pour de la diarrhée et de la léthargie. Les résultats des tests diagnostiques étaient compatibles avec une dysfonction rénale grave. ...
The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism. Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred col...
Hinged circular fixator construct for correction of congenital metatarsal deformity in a foal. A five-week-old American Quarter Horse colt was presented for evaluation of a left hindlimb deformity and lameness. Radiographs of the left hindlimb revealed a varus deformity with recurvatum originating in the mid-diaphysis of the third metatarsal bone. Surgical correction was undertaken by performing an osteotomy through the centre of rotation of angulation located within the mid-diaphysis of the third metatarsal bone, and a four-ring hinged circular external fixator construct was applied. Distraction of the osteotomy site was performed over an 11 day period. Notable complications included f...
Megaesophagus in Friesian horses associated with muscular hypertrophy of the caudal esophagus. Friesian horses have a perceived high rate of congenital or hereditary diseases, including megaesophagus, that may lead to choke and death. A retrospective study was performed to determine the prevalence and pathologic characteristics of esophageal disease in 852 horses, including 17 Friesians, that had been necropsied over a 6-year period at the Diagnostic Center for Population and Animal Health. Forty-two horses had grossly described esophageal lesions (25 muscular hypertrophy, 7 hemorrhage, 6 megaesophagus, 4 erosion/ulceration, 3 obstruction, 2 tears, 2 secondary neoplasms, 2 lymphoid patc...
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ(2)=1022.00, p<<...
Extensive epidermal naevus in a foal. A 2-month-old Standardbred filly was presented for examination and treatment of extensive congenital skin lesions that had a linear distribution on the left front leg extending from the dorsal midline to the metacarpal region. The lesions were surgically excised under general anaesthesia. Surgical excision was curative and there were no signs of recurrence 6 weeks after surgery. The number and distribution of lesions were more extensive than in previously reported cases of congenital papillomas, which have also been described as epidermal growth abnormalities (naevi or hamartomas). Early repor...
Longitudinal development of equine forelimb conformation from birth to weaning in three different horse breeds. There is limited published data on conformational changes in the forelimbs of growing foals. This study was designed to describe the changes in conformation of the carpus and distal forelimb from birth to weaning in foals of three different breeds. Evaluation of the conformation of the carpus, fetlock, pastern and foot was carried out in 134 Thoroughbreds, 162 French Trotters and 98 Selle Français (French Warmblood) within 1 month of age and then at approximately 2 month intervals until weaning at approximately 6 months of age. The prevalence of limb deviations decreased from birth to weaning...
Congenital defects of the soft palate in 15 mature horses. Horses, usually foals, with a congenital defect of the soft palate have been reported infrequently, and most reports describe a surgical procedure to repair the defect. Results of conservative management have not been previously reported. Objective: To describe 15 horses affected with soft palate defects that were presented for examination when mature. Methods: Retrospective case series. Methods: Clinical records from horses identified as having been diagnosed with a soft palate defect when older than one year were reviewed retrospectively. Follow-up was obtained wherever possible. Results: Na...
The gold standard of dental care: the juvenile horse. Postpartum evaluation of the foal's head and mouth are performed to detect craniofacial malformations and other congenital defects. Detailed oral examination and diagnostic imaging can provide diagnostic and prognostic information about congenital abnormalities of the mouth or skull. Important abnormalities of foals include wry nose, cleft palate, overbite (parrot mouth), and underbite (monkey mouth, sow mouth). Tumors and cysts can be detected in young horses. In juvenile horses, primary dental care procedures include oral examination, management of sharp enamel points, management of deciduou...
Phenotypic characteristics of hydrocephalus in stillborn Friesian foals. Hydrocephalus is uncommon in horses. However, in recent years, it has become clear that the prevalence of hydrocephalus is greater in Friesian horses than in other breeds probably due to their limited gene pool. Before identification of candidate genes that predispose to the development of hydrocephalus in Friesian horses can be pursued, an in-depth, phenotypic, pathological description of the condition in Friesians would be of great benefit. Our study aimed to characterize the morphology of hydrocephalus in Friesian horses, to support further investigation of the genetic background of this co...
Detection of two equine trisomies using SNP-CGH. Chromosomal aberrations in the horse are known to cause congenital abnormalities, embryonic loss, and infertility. While diagnosed mainly by karyotyping and FISH in the horse, the use of SNP array comparative genome hybridization (SNP-CGH) is becoming increasingly common in human diagnostics. Normalized probe intensities and allelic ratios are used to detect changes in copy number genome-wide. Two horses with suspected chromosomal abnormalities and six horses with FISH-confirmed aberrant karyotypes were chosen for genotyping on the Equine SNP50 array. Karyotyping of the first horse indicated m...
Contracted foal syndrome associated with multiple malformations in two foals. Congenital anomalies in horses are very rare, and contracted foal syndrome is one of the most commonly reported. This malformation is characterized by contraction of the joints of the forelimbs and/or hindlimbs. In addition, the syndrome can be characterized by vertebral column malformations, such as scoliosis or torticollis, and cranial deformity. The present report describes the radiological and necroscopical findings of multiple rare malformations in two foals. Both foals showed skeletal abnormalities and fenestration of the abdominal cavity. Other pathological findings include a interventr...
Ultrasonographic features of PMEL17 (Silver) mutant gene-associated multiple congenital ocular anomalies (MCOA) in Comtois and Rocky Mountain horses. (1) To describe the ultrasonographic appearance of multiple congenital ocular anomalies (MCOA) in the eyes of horses with the PMEL17 (Silver) mutant gene. (2) To compare the accuracy of B-mode ocular ultrasound to conventional direct ophthalmoscopy. Methods: Sixty-seven Comtois and 18 Rocky Mountain horses were included in the study. Methods: Horses were classified as being carriers or noncarriers of the PMEL17 mutant allele based on coat color or genetic testing. Direct ophthalmoscopy followed by standardized ultrasonographic examination was performed in all horses. Results: Seventy-five of 8...
Ocular abnormalities in healthy Standardbred foals. To determine the prevalence and describe ocular abnormalities in healthy Standardbred foals within 48 h of birth. Methods: One hundred and two neonatal foals. Methods: All foals had an unassisted delivery. On the basis of physical examination and the results of hematological and biochemical parameters, all foals were unaffected by systemic diseases. A complete ophthalmic examination was performed within 48 h of birth. Foals with ocular hemorrhages were re-examined weekly until the abnormalities were resolved. Results: 65/102 (63.7%) foals did not show ocular abnormalities, while in 37/102 (36....
Congenital ascites due to hepatoblastoma with extensive peritoneal implantation metastases in a premature equine fetus. A premature dead equine fetus with excessive fluctuating distension of the abdomen was delivered by extraction. Post-mortem examination revealed ascites and a solitary, irregular, bulging, multinodular, firm, yellow mass of 25 cm in diameter in the right liver lobe. Extensive peritoneal implantation metastases were present. The masses were composed of polygonal embryonal cells arranged in sheets and nests. Based on the immunohistochemical expression of Ki67, low molecular weight cytokeratin and alpha-1 fetoprotein, a diagnosis of hepatoblastoma with peritoneal implantation metastases was made....
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a...
Correction of Lower Limb Deformities Using Ilizarov’s Technique. India accounts for approximately 10 million orthopaedically handicapped children and adults with limb deformity. Ilizarov ring fixator could treat most of these deformities. Methods: Twenty cases of deformities of lower limb managed with Ilizarov technique during period between March 2001 and February 2003 were studied. Results: 55% were in the age group of 11-30 years. Out of the 20 cases studied, 6 were congenital talipes equino varus, 8 were fixed flexion deformity of knee, 4 were equines deformity of the ankle and 2 were malunited fracture shaft of tibia.4 patients who had recurrence were ...
Multiple congenital ocular anomalies in Icelandic horses. Multiple congenital ocular anomalies (MCOA) syndrome is a hereditary congenital eye defect that was first described in Silver colored Rocky Mountain horses. The mutation causing this disease is located within a defined chromosomal interval, which also contains the gene and mutation that is associated with the Silver coat color (PMEL17, exon 11). Horses that are homozygous for the disease-causing allele have multiple defects (MCOA-phenotype), whilst the heterozygous horses predominantly have cysts of the iris, ciliary body or retina (Cyst-phenotype). It has been argued that these ocular defects...
Syringohydromyelia in horses: 3 cases. Syringomyelia and hydromyelia are cavitary lesions of the spinal cord that may be acquired or congenital. These lesions are not frequently reported in large animal species. The presenting complaints, clinical, gross pathological, and histopathologic findings of 2 cases of syringomyelia and 1 case of hydromyelia in horses are described. La syringomyélie et l’hydromyélie sont des lésions cavitaires de la colonne vertébrale qui peuvent être acquises ou congénitales. Ces lésions ne sont pas fréquemment signalées chez les espèces de grands animaux. Les plaintes de présentation et les ...
Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse. To determine if congenital stationary night blindness (CSNB) exists in the Miniature Horse in association with leopard complex spotting patterns (LP), and to investigate if CSNB in the Miniature Horse is associated with three single nucleotide polymorphisms (SNPs) in the region of TRPM1 that are highly associated with CSNB and LP in Appaloosas. Methods: Three groups of Miniature Horses were studied based on coat patterns suggestive of LP/LP (n=3), LP/lp (n=4), and lp/lp genotype (n=4). Methods: Horses were categorized based on phenotype as well as pedigree analysis as LP/LP, LP/lp,...
Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases. To describe the clinical phenotype and genetics of equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies. Methods: Five presumably unrelated ponies. Methods: The ponies were examined under field conditions in their barn by slit lamp biomicroscopy, indirect ophthalmoscopy, and applanation tonometry. Blood was collected and genomic DNA extracted for MCOA genotyping using the PMEL17ex11 marker. Results: One pony solely presented with temporal ciliary body cysts, suggestive of the less severe Cyst phenotype of MCOA; the animal was heterozygous at the MCOA loc...