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VACTERL with Hydrocephalus

Last updated Dec. 24, 2018

Approved by: Krish Tangella MD, MBA, FCAP

VACTERL with Hydrocephalus (or VACTERL-H) is a rare genetic disorder, wherein the features of VACTERL occur in association with hydrocephalus.


What are the other Names for this Condition? (Also known as/Synonyms)

  • VACTERL Association with Hydrocephalus
  • VACTERL-H
  • X-Linked VACTERL with Hydrocephalus Syndrome

What is VACTERL with Hydrocephalus? (Definition/Background Information)

  • VACTERL with Hydrocephalus (or VACTERL-H) is a rare genetic disorder, wherein the features of VACTERL occur in association  with hydrocephalus
  • Hydrocephalus is a condition characterized by accumulation of excess fluid around the brain and spinal cord. This excess accumulation of fluid exerts pressure on the brain causing various abnormalities, collectively called VACTERL
  • VACTERL stands for multiple diseases that include:
    • V- Vertebral abnormalities
    • A - Anal atresia
    • C - Cardiac defects
    • T- Tracheoesophageal fistula
    • E- Esophageal atresia
    • R- Renal abnormalities
    • L- Limb abnormalities
  • VACTERL with Hydrocephalus is inherited as an autosomal recessive pattern, in which two copies of an abnormal gene need to be present in an individual to have the disorder. The condition can also be an X-linked inheritance (where males inherit the disorder from the mother with one or two copies of the abnormal gene)
  • VACTERL with Hydrocephalus is a condition with a multitude of symptoms including inability passing stools, septal defects in the heart, infections in the respiratory tract, food being aspired into the airways, backflow of urine to the ureter from the urinary bladder, seizures, and developmental delays
  • Management of VACTERL with Hydrocephalus generally involves the combined efforts of several specialists including surgeons, cardiologists, urologists, orthopedicians, and ENT (ear, nose, throat) specialists, who monitor or treat the condition
  • The severity of symptoms dictates its outcome. Many infants do not live past early infancy, and those who do, are reported to suffer from developmental delays and physical handicaps
  • VACTERL with Hydrocephalus is a congenital disorder that is not preventable; although genetic counselling may help prospective parents understand the risks better

Who gets VACTERL with Hydrocephalus? (Age and Sex Distribution)

  • VACTERL with Hydrocephalus is an inherited condition present at the time of birth
  • There is no gender predilection reported for this condition
  • All racial and ethnic groups are affected

What are the Risk Factors for VACTERL with Hydrocephalus? (Predisposing Factors)

  • The main risk factor associated with VACTERL with Hydrocephalus is family history of the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of VACTERL with Hydrocephalus? (Etiology)

  • VACTERL with Hydrocephalus is a genetic disorder, inherited as an autosomal recessive or X-linked recessive mode of inheritance

Autosomal recessive: Autosomal recessive conditions are traits or disorders that are occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition but will not show symptoms themselves. When two carriers mate, each child has a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

X-linked recessive: X-linked recessive conditions are traits or disorders that occur when two copies of an abnormal gene are inherited on a sex chromosome (X or Y chromosome). All X-linked recessive traits are fully evident in males, because they have only one copy of the X chromosome. This means that there is no normal gene present to mask the effects of the mutant copy. All males who are affected will pass the mutated gene onto their female offspring, because they must inherit one copy of the X chromosome from each parent. This means that they will be unaffected carriers. Females are rarely affected by X-linked recessive disorders because they have two copies of the X chromosome. In the rare case that they inherit two mutated copies of the gene, they will inherit the condition.

What are the Signs and Symptoms of VACTERL with Hydrocephalus?

The signs and symptoms of VACTERL with Hydrocephalus may include:

  • Vertebral abnormalities:
    • Improper development of the spine bone
    • Missing ribs
    • Presence of extra ribs
    • Spina bifida: The bones of the spinal column are not completely closed
    • Scoliosis: Abnormal bend of the spinal cord
    • The lowest bone of the spinal column may be absent (sacral agenesis)
  • Anal atresia: A thin covering blocks the anal passage, and hence, blocks normal passage of stool
  • Cardiac defects that include ventricular septal defects (VSD) and atrial septal defect (ASD): Defects in the septum dividing the 4 chambers of the heart cause the mixing of oxygenated and deoxygenated blood between the chambers
  • Hypoplastic left heart syndrome causing underdevelopment of some parts of the heart
  • Patent ductus arteriosus: PDA, a condition in which passage between the aorta and pulmonary artery fails to close at birth
  • Transposition of the arteries: A condition in which the aorta and pulmonary artery (two major blood vessels of the body) are switched (in each other’s normal position)
  • Renal abnormalities that include:
    • Renal aplasia: One or both the kidneys do not develop properly
    • Renal dysplasia: Malformation of one or both kidneys
    • Renal ectopia: Malpositioned kidneys
  • Vesicoureteral reflux: Abnormal backflow of the urine from urinary bladder to the ureter
  • Hypospadias: Urethral opening is not at the end of the penis

Limb anomalies that include:

  • Radial aplasia: Failure of the radial bone (forearm bone) to grow
  • Radial hypoplasia: Underdevelopment of the radius
  • Underdevelopment or absence of the thumb
  • Triphalangeal thumb: Presence of an extra bone in the thumb
  • Polydactyly: Extra fingers may be present
  • Syndactyly: Fused fingers
  • Radioulnar synostosis: The two forearm bones are joined together in an unusual manner

Symptoms of hydrocephalus include:

  • Macrocephaly: Enlarged head size
  • Vomiting
  • Irritability
  • Seizures (convulsions)
  • Downward gaze of the eyes

How is VACTERL with Hydrocephalus Diagnosed?

  • Diagnosis of VACTERL with Hydrocephalus is made by a complete physical examination of the infant
  • The presence of characteristic signs and symptoms help the healthcare provider during the diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of VACTERL with Hydrocephalus?

The possible complications that may arise due to VACTERL with Hydrocephalus include:

  • Congestive heart failure characterized by the following features:
    • Tachypnea: Rapid rate of breathing
    • Wheezing
    • Tachycardia: Fast heart beat
    • Failure to thrive
  • Tracheoesophageal fistula/esophageal atresia:
    • Aspirations of food contents in to the airways
    • Respiratory infections such as pneumonia
  • Hydronephrosis: Abnormal accumulation of urine in the kidneys
  • Frequent urinary tract infection
  • Developmental delays due to hydrocephalus
  • Failure to thrive
  • Stillbirth: Fetus dies while it is in the uterus
  • High mortality rate of infants: Inability to survive beyond early infancy

How is VACTERL with Hydrocephalus Treated?

Treatment measures for VACTERL with Hydrocephalus may include:

  • Structural deformities, such as radial defects, heart defects, and anal atresia, may be corrected through surgery
  • Hydrocephalus can be addressed by inserting a tube to drain the excess cerebrospinal fluid (CSF)
  • Infants who have been diagnosed with VACTERL with Hydrocephalus may have to be managed by a team of several specialists including cardiologist, urologists, orthopaedists, and ENT physicians

How can VACTERL with Hydrocephalus be Prevented?

  • Currently, there are no specific methods or guidelines to prevent VACTERL with Hydrocephalus, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counselling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders, such as VACTERL with Hydrocephalus

What is the Prognosis of VACTERL with Hydrocephalus? (Outcomes/Resolutions)

  • The prognosis of VACTERL with Hydrocephalus generally depends on the severity of the malformations; only a few children survive and cross the early infancy stage
  • Even those who survive late infancy have to cope with severe developmental delays and physical challenges
  • In a majority, the prognosis is poor

Additional and Relevant Useful Information for VACTERL with Hydrocephalus:

  • A congenital manifestation of hydrocephalus indicates that the causal factor has an origin in the womb, or it followed immediately upon the baby’s birth

The following article link will help you understand congenital hydrocephalus:

http://www.dovemed.com/diseases-conditions/congenital-hydrocephalus/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 27, 2016
Last updated: Dec. 24, 2018