Body-Stalk Anomaly


Body-stalk anomaly is a rare, severe birth defect involving a large abdominal wall defect and a group of associated malformations. The condition is sometimes referred to by other names, including limb-body wall complex, amniotic band disruption complex, and amnion rupture sequence. 

The defect occurs when the abdominal wall fails to form during fetal development. As a result, the baby’s abdominal organs (including the intestines and liver) are located outside of the body and are attached directly to the placenta. 

Callosal anomalies are birth defects in which the corpus callosum, the structure in the brain that connects the left and right sides (hemispheres), is missing, agenesis of the corpus callosum or partially missing, dysgenesis of the corpus callosum.  

The corpus callosum is made up of millions of nerve fibers that enable the two sides of the brain to communicate. When this area of the brain doesn’t form properly, it can result in cognitive impairment, developmental delays and other health issues. The condition can range from mild to severe. 

Agenesis of the corpus callosum may be an isolated defect or it can occur in combination with other abnormalities of the brain, heart or other organs.

Treatment is aimed at diagnosing the reason for the anomaly If possible, managing the child’s symptoms and maximizing their ability to function. 

Multiple severe fetal malformations are associated with the condition, including: 

  • Limb defects 
  • Deformity of the spine (kyphoscoliosis, where the spine is curved both side to side and front to back) 
  • Neural tube defects (abnormalities of the brain, spinal cord, or spine) 
  • Craniofacial defects 
  • Malformation of the chest wall 
  • Absent or extremely short umbilical cord 
  • Pulmonary hypoplasia (incomplete development of the lungs) 
  • Malformations of the urinary organs (kidneys and bladder) and genitals 
  • Intestinal atresia (intestines that are completely blocked or closed off) 

There is no treatment for body-stalk anomaly.

How will agenesis of the corpus callous affect my baby? 

The severity of the agenesis of the corpus callous varies widely depending on the presence of any associated brain conditions and if it is related to a genetic condition that affects development. Some children with callosal anomalies have normal intellect and only mild learning disabilities. Others may have severe intellectual disabilities, seizures, cerebral palsy, development delays and social challenges. 

Symptoms vary based on each child’s condition, but may include: 

  • Seizures 
  • Spasticity (muscle tightness or stiffness) 
  • Feeding and swallowing difficulties 
  • Delays in development of motor skills, such as holding the head up, sitting, standing and walking 
  • Delays in talking and reading 
  • Intellectual disabilities 
  • Vision and hearing problems 
  • Lack of coordination 
  • Poor muscle tone 

In some cases, the condition may become more evident during the teenage years, when the teen falls behind in mental processing and social skills that their peers are developing. During adolescence, symptoms may include: 

  • Lack of abstract reasoning and problem-solving skills 
  • Difficulty with social interaction/social immaturity 
  • Inattentiveness/attention deficit disorder 
  • Obsessive behaviors

Body-Stalk Anomaly Prognosis 

The malformations that make up body-stalk anomaly are so severe the baby is unable to survive, often due to pulmonary hypoplasia. 

In pregnancies involving this birth defect, the result is typically miscarriage, early termination, or stillbirth. In rare cases the newborn may survive for a short time after delivery. 

Body-Stalk Anomaly Causes 

The exact cause of body-stalk anomaly remains unknown. The condition is rare, with an estimated prevalence ranging from 1 out of every 10,000 to 42,000 pregnancies. 

Agenesis of the corpus callosum is a congenital defect, meaning it is present at birth. 

The condition occurs when there is a disruption in the normal development of the brain. The corpus callosum usually forms near the end of the first trimester. 

While the cause is often not identified, potential causes include: 

  • Genetics such as chromosome abnormalities or mutations in a single gene 
  • Maternal viral infection passed to the fetus 
  • Exposure to certain medications, drugs or alcohol during pregnancy 
  • Brain cysts that prevent the fetal brain from developing normally

Body-Stalk Anomaly Diagnosis 

Body-stalk anomaly is typically diagnosed during a routine ultrasound that reveals a severe abdominal wall defect and other structural abnormalities. Agenesis of the corpus callosum may be diagnosed during pregnancy through a routine prenatal ultrasound. In some cases, the condition isn’t diagnosed until after birth, typically within the first two years of life. 

A diagnosis of body-stalk anomaly is made if at least two of the following three defects are present: 

  • A thoracic (chest)/abdominal wall defect 
  • Limb defects 
  • Encephalocele (where a portion of the brain protrudes through a hole in the skull) with facial clefts

The ultrasound may also show severe spinal curvature and a short umbilical cord. 

An accurate diagnosis is vital to differentiating body-stalk anomaly from other abdominal wall defects that are treatable, such as gastroschisis and omphalocele

Specialized Evaluation and Prenatal Care

If body-stalk anomaly is diagnosed or suspected during pregnancy, you may be referred to a fetal center for further evaluation. It is very important for you to be seen at a specialty fetal center to confirm the suspected diagnosis. 

At Texas Children’s Fetal Center, we arrange for you to visit as quickly as possible for a comprehensive assessment by a team of specialists experienced in the detection, evaluation, diagnosis and treatment of rare fetal conditions, including maternal-fetal medicine physicians (OB/GYNs specializing in high-risk pregnancies), fetal imaging experts, pediatric surgeons, and neonatologists. 

Additional testing will be performed using state-of-the-art imaging technologies and techniques, providing detailed views of your baby’s condition for the most accurate diagnosis. Testing may include a high-resolution anatomy ultrasound, an ultra-fast MRI and a fetal echocardiogram (an ultrasound of your baby’s heart).

Our specialists will then meet with you about the results, discuss the prognosis and answer any questions you have, to help you make informed decisions that are right for your family. 

A diagnosis during pregnancy enables your family and your healthcare team to plan ahead for the special needs your baby may have at birth, for the earliest possible treatment. Early intervention can help maximize the child’s abilities and skills while providing new parents the support they need. 

Mother and baby will be closely monitored throughout pregnancy with regular ultrasounds to assess fetal growth and watch for signs of complications.

Pregnancy and Delivery

Mother and baby will be closely monitored during pregnancy for signs of complications, including miscarriage or premature labor. 

We recommend delivery at a center with the expertise and resources to care for high-risk pregnancies and critically ill newborns, including the highest level of neonatal intensive care (NICU).

Body-Stalk Anomaly Treatment After Birth 

Treatment for agenesis of the corpus callosum is focused on managing the child’s symptoms and maximizing their ability to function. 

Treatment strategies may include: 

  • Medications to control seizures 
  • Physical therapy to improve coordination and strength 
  • Speech therapy 
  • Occupational therapy to improve daily living skills (getting dressed, eating, etc.) and mobility 
  • Special education for learning disabilities

In cases involving hydrocephalus (accumulation of fluid in the brain), surgery may be performed to place a shunt (hollow tube) in the baby’s brain to drain the excess fluid, reducing the pressure on the brain. 

Postnatal Care Team 

A unique and distinct advantage for mothers delivering at Texas Children’s Pavilion for Women is our location inside one of the top children’s hospitals in the nation, for seamless access to the specialists and services your child may need at birth. 

Our Fetal Center team works closely with Texas Children’s Neurology and Developmental Neuroscience Center, a multidisciplinary team of specialists experienced in treating agenesis of the corpus callosum. Texas Children’s Hospital is ranked #2 in the nation for pediatric neurology and neurosurgery care by 2024 U.S. News & World Report

Depending on your baby’s needs, his or her postnatal care team may include:

Why Texas Children’s Fetal Center? 

  • A single location for expert maternal, fetal and pediatric care. At Texas Children’s Hospital, you and your baby receive the specialized care required for the diagnosis and treatment of agenesis of the corpus callosum all in one location, for highly coordinated care and treatment planning. 
  • A skilled, experienced team with proven outcomes. We have a dedicated team of maternal-fetal medicine specialists, fetal imaging experts, pediatric neurologists and neurosurgeons, genetic counselors, neonatologists and others who work in concert to care for you and your baby every step of the way, using proven protocols we’ve developed over the years. With their combined expertise and unified approach, this team offers the best possible care for babies with fetal brain malformations. 
  • We care for your child’s needs at every stage of life. Our comprehensive approach starts with your first prenatal visit and continues through delivery, postnatal care, and throughout childhood, thanks to one of the nation’s leading teams of fetal and pediatric specialists for the care and treatment of rare birth defects.

Patient Support Services 

Emotional support is vital for families facing a diagnosis of body-stalk anomaly. 

Our Fetal Center patients benefit from: 

Why Texas Children’s Fetal Center? 

At Texas Children’s Hospital, mother and baby receive the specialized care required for pregnancies involving body-stalk anomaly all in one location. 

We offer a compassionate, experienced team of maternal, fetal and pediatric specialists dedicated to caring for rare and complex birth defects, and ongoing support for your family every step of the way.