Quan-Smith syndrome


Quan-Smith syndrome

Description:

Associated with VACTERL syndrome. Alternative Name: VATER association.

VACTERL is an acronym for Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal,

and Limb.

Abnormalities of vertebrae, anus, cardiovascular tree, trachea, esophagus, renal system, and limb buds reportedly associated with administration of sex steroids during early pregnancy. A constellation of vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and renal and radial anomalies, associated with Fanconi anemia.

V - Vertebrae problems like abnormally formed vertebrae, hemivertebrae, and extra ribs.

A - Anal Anomalies and sometimes rectum problem like, there is no opening where the anus should be called an imperforate anus.

T - Trachea problems, like tracheal esophageal fistula.

E - Esophagus problems like esophageal atresia.

R - Radius (lower arm bone) or renal problems, like larger lower arm bone is abnormally formed, or a thumb is missing, or abnormally formed kidney.

About seventy percent of children will be born with anomalies of their vertebral column. Most are benign, but they can contribute to other problems. Some vertebral issues that are common are hemivertebrae (half formed vertebrae), butterfly shaped vertebrae, fused vertebrae, missing vertebrae, tethered spinal cord, Chiari Malformation and scoliosis. For most children these anomalies cause few issues early in life, but scoliosis may become more significant later on.

Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease. The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects (ASD), and tetralogy of Fallot.

Fanconi anemia is a very rare, recessive genetic disorder. If both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA.

Fanconi anemia is an inherited type of anemia that leads to bone marrow failure. Though considered primarily a blood disease, FA may affect all systems of the body. It is a complex and chronic disorder that is psychologically demanding. FA is also a cancer-prone disease, affecting patients decades earlier than the general population.

Imperforate anus is the absence of a normal anal opening. The diagnosis is usually made shortly after birth by a routine physical examination. Imperforate anus occurs in about 1 in 5000 births and its cause is unknown.

Renal or kidney defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery (there are usually two) which can often be associated with kidney or urologic problems. These defects can be severe with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.

Limb defects occur in up to 70 percent of babies with VACTERL association and include absent or displaced thumbs, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects. Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.

No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers.

Treatment:

Treatments will differ from child to child since children with VACTERL are all very unique, resulting in different health problems. The number of surgeries varies widely among children born with VACTERL. Some can have as few as three surgeries to fix defects, while others have as many as 60 or more, depending on the extent of the defects. While the defects of VACTERL never go away, through surgery, treatment, and acceptance they become more manageable. VACTERL is not consistent from child to child, and there never is a constant with ongoing surgeries and treatments.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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