Question: What is (are) VACTERL association ?
Answer: VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.
Source: GARD

Question: What are the symptoms of VACTERL association ?
Answer: What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Premature birth 90% Tracheal stenosis 90% Tracheoesophageal fistula 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Laryngomalacia 50% Renal hypoplasia/aplasia 50% Vertebral segmentation defect 50% Abnormality of female internal genitalia 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the gallbladder 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the pancreas 7.5% Abnormality of the ribs 7.5% Abnormality of the sacrum 7.5% Anencephaly 7.5% Bifid scrotum 7.5% Cavernous hemangioma 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Encephalocele 7.5% Finger syndactyly 7.5% Hypoplasia of penis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Multicystic kidney dysplasia 7.5% Non-midline cleft lip 7.5% Omphalocele 7.5% Preaxial hand polydactyly 7.5% Single umbilical artery 7.5% Abnormality of the nasopharynx - Abnormality of the sternum - Absent radius - Anal atresia - Choanal atresia - Ectopic kidney - Esophageal atresia - Failure to thrive - Hydronephrosis - Hypoplasia of the radius - Hypospadias - Large fontanelles - Laryngeal stenosis - Occipital encephalocele - Patent ductus arteriosus - Patent urachus - Postnatal growth retardation - Radioulnar synostosis - Renal agenesis - Renal dysplasia - Scoliosis - Short thumb - Spina bifida - Sporadic - Syndactyly - Tethered cord - Tetralogy of Fallot - Transposition of the great arteries - Triphalangeal thumb - Ureteropelvic junction obstruction - Ventricular septal defect - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes VACTERL association ?
Answer: Is VACTERL association inherited, or does it have a genetic component? A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association. A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 genes and mitochondrial DNA. When a condition is defined as being an "association", it means that it is made up of a series of specific features which have been found to occur together more often than it would happen due to chance alone, but for which no specific cause has been determined (idiopathic). For indiviuals with VACTERL association, the risk for it to recur in either a sibling or a child is usually quoted as being around 1% (1 in 100). There are very few reports of recurrence of the VACTERL association in families in the literature. Researchers have stated that when dysmorphic features, growth abnormalities, and/or learning disability are present in addition to the features of VACTERL association, it may actually be due to a syndrome or chromosome abnormality; if this is the case, the recurrence risk for a family member would be the risk that is associated with that specific diagnosis. Genetic disorders which have features in common with VACTERL association include Feingold syndrome, CHARGE syndrome, Fanconi anemia, Townes-Brocks syndrome, and Pallister-Hall syndrome. It has also been recognized that there is a two to threefold increase in the incidence of multiple congenital malformations (with features that have overlapped with those of VACTERL association) in children of diabetic mothers.
Source: GARD

Question: How to diagnose VACTERL association ?
Answer: Is genetic testing available for VACTERL association? Because there is no known cause of VACTERL association, clinical genetic testing is not available for the condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testing may be available for that condition. GeneTests lists the names of laboratories that are performing genetic testing for VACTERL association. Although no clinical laboratories are listed for this condition, there are some research laboratories performing genetic testing; to see a list of these laboratories, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. How is VACTERL association diagnosed? Prenatal diagnosis of VACTERL association can be challenging because certain component features of the condition can be difficult to detect prior to birth. Therefore, the diagnosis of VACTERL association is typically based on features that are seen when a baby is born or in the first few days of life. The diagnosis is based on having at least three of the following features (which make up the acronym VACTERL): vertebral defects, commonly accompanied by rib anomalies; imperforate anus or anal atresia; cardiac (heart) defects; tracheo-esophageal fistula with or without esophageal atresia; renal (kidney) anomalies including renal agenesis, horseshoe kidney, and cystic and/or dysplastic kidneys; and limb abnormalities. Additional types of abnormalities have also been reported in affected individuals and may be used as clues in considering a diagnosis of other conditions with overlapping features. Depending on the features present, some other conditions that may be considered when diagnosing a child who has features of VACTERL association (differential diagnosis) may include Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral spectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus.
Source: GARD