Constriction ring syndrome


Constriction ring syndrome is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect, names. It is a malformation due to intrauterine bands or rings that produce deep grooves in extremities such as fingers and toes. In rare cases the constriction ring can form around other parts of the fetus and cause amputation or even intrauterine death. The anatomy proximal to the site of constriction is developmentally normal.
CRS can be associated with other malformations, with club foot being most common.
The precise configuration of the bands, lymphedema, and character of the amputations are not predictable and vary with each individual patient. Also, more than one extremity is usually affected, and it is rare for only one ring to present as an isolated malformation with no other manifestation of this syndrome.

Signs and symptoms

The constriction of appendages by amniotic bands may result in:
  1. Constriction rings around the digits, arms, and legs
  2. Swelling of the extremities distal to the point of constriction
  3. Amputation of digits, arms, and legs

    Cause

There are three different theories to the cause of the constriction ring syndrome.
The first is the intrinsic theory, which was proposed by Streeter in 1930. This theory implicates an anomaly in germ plasm resulting in the defects. This theory is reinforced by the clinical presentation of the constriction rings with other internal visceral and systematic anomalies. Because of these other anomalies, the names constriction ring syndrome, constriction band syndrome, and Streeter bands are given to this defect/disease. This is sometimes attributed to vascular disruption shared between cleft palate and other forms of cleft defects occurring together with ABS; this co-occurrence suggests an intrinsic defect of the blood circulation.
The second theory postulates the involvement of an intrauterine disruption during pregnancy followed by a cascade of events involving amniotic rupture. When spontaneous rupture of the amnion occurs early in the second trimester, the separation of amnion from chorion produces many small, thin strands that can become entangled within digits and toes. Later, as the fetus grows but the bands do not, the bands become constricting. This constriction reduces blood circulation, and hence causes congenital abnormalities. In some cases a complete "natural" amputation of one or more digits or limbs may occur before birth or the digits or limbs may be necrotic and require surgical amputation following birth. The names amniotic band syndrome, amniotic disruption complex, and amniochorionic mesoblastic fibrous strings are based on this theory.
The third theory postulates the involvement of intrauterine trauma. Intrauterine trauma could be something like amniocentesis, or something like a fetal surgery. An intrauterine trauma could result in hemorrhage leading to acrosyndactyly. One study also showed the presence of bands as confirmed by sonography after fetal surgery.
Because of these different theories, there are many names for this syndrome. For a long time people believed the second theory about the amniotic rupture and strands. In the research cases not every child had a real strand. This could mean that there has to be another explanation for the development of these anomalies.

Diagnosis

Diagnosis of constriction ring syndrome can be confirmed with an ultrasonography. The clinical manifestations can be extremely variable. It could be a single or multiple manifestation. This can be confirmed at the end of the first trimester or at the beginning of the second trimester. However, not every patient will be diagnosed at that moment; most will be diagnosed at birth.
Individual strands are small and hard to see on ultrasound, so bands are detected indirectly because of the constrictions and swelling upon limbs or digits. Misdiagnosis is also common, so if there are any signs of amniotic bands, further detailed ultrasound tests should be done to assess the severity. 3D ultrasound and MRI can be used for more detailed and accurate diagnosis of bands and the resulting damage/danger to the fetus.
Decreased fetal movement could be a sign of a serious problem which may include ABS. It is rare but possible for the membrane to become wrapped around the placenta or the neck of the baby in the womb causing strangulation and death.
There is a strong relationship between ABS and clubfoot. 31.5% of clubfoot cases can be correlated with ABS, with 20% occurring bilaterally. Other abnormalities found with ABS include: clubhands, cleft lip, and/or cleft palate, and hemangioma.

Differential diagnosis

The differential diagnosis includes:
ADAM Complex; CRS is sometimes mislabeled as ADAM complex. ADAM is an abbreviation for amniotic deformity, adhesions mutilations. CRS is the malformation due to a constriction ring around mostly a limb. ADAM complex is the association of limb defects and certain craniofacial clefts
"Adams–Oliver syndrome is often mislabeled as CRS and consists of cutis aplasia of the scalp in which a longitudinal defect can vary in size and can often be associated with full-thickness skullcap loss. The distal digital or toe hypoplasia-aplasia is often confused with CRS. Constriction rings with or without edema are not present. The digital or toe hypoplasia-aplasia usually contains diminutive nails or nail folds".

Classification

The constriction ring syndrome is a complex collection of asymmetric congenital anomalies, in which no two cases are exactly alike. This is why a classification is difficult to make.
The most widely used classification system was proposed by Patterson. This classification system is based on the severity of the syndrome and is useful because, the different types require different treatments. Other clinicians have amended this scheme by separating the depth of the ring into mild, moderate, severe, and amputation and by further defining the presence or absence of lymphedema or soft tissue loss distal to the ring. Expanding over subdivision in depth of the clefts for every classification is not necessary because the principles of treatment and technique for correction are the same.
There are four categories:
  1. simple constriction rings
  2. constriction rings associated with deformity of the distal part with or without lymphedema
  3. constriction rings associated with acrosyndactyly
  4. uterine amputation
Patterson divided the constriction ring associated with acrosyndactyly into three types:
  • Type I: conjoined fingertips with well-formed webs of the proper depth
  • Type II: the tips of the digits are joined, but web formation is not complete
  • Type III: joined tips, sinus tracts between digits and absent webs
;Patterson I
There are simple constriction rings which are strands most commonly around the distal extremities as fingers and toes. In general, the thumb is not likely to be affected by a constriction ring because the fetus typically holds the thumb in tight adduction flexion, making entanglement with strands less likely. These malformations need to be surgically removed which must be executed in different stages and can done by different techniques.
;Patterson II
The CRS involves strands which obstruct the lymphatic vessels and thus causing fluid retention, distal of the affected extremity. This utters itself with swollen parts distal of the constriction.
;Patterson III
In this form there is a complex form of syndactyly named acrosyndactyly, the fingers were initially separated but due to the constriction they are formed back together. Sometimes multiple fingers can be involved. The distal fusion between digits or toes never initially involves a skeletal coalition. The digits are usually hypoplastic if multiple digits are involved. When the constriction cuts off the blood supply to the fingers, the fingers can form a peak with the most palmar digit being the index finger. Normal neurovascular bundles are not present in the distal parts. Hands with fused fingers need to be released in phases to preserve the distal blood supply.
;Paterson IV
One of the most severe consequence of constriction strains is probably intrauterine amputations, this is where the constriction goes as deep as the bone and cuts off the blood supply of the proximal extremity. The result will be that the developing toe or finger will become ischemic and fall off. Because the result is a transverse amputation that cuts off the vascular supply to the developing extremity, the actual constriction ring is not seen.
This can result in different outcomes:
  • complete resorption; this is the most common form of amputation. In this form the amputated digit is completely resorbed during intrauterine development and therefore the amputated digit can't be found.
  • recovery of the digit; the digit is recovered with the placenta during delivery.
  • engraftment elsewhere; the amputated digit can be, in rare cases, engrafted somewhere on the fetus.
;Intrauterine death
In extremely rare cases a strain can form around the umbilical cord and cut off the blood supply to the fetus which will result in intrauterine death.
;Malformation associated with constriction ring syndrome
The percentage of associated anomalies varies from 40% to as high as 80%
Constriction ring deformities are as common on the lower extremity as on the upper, almost all of these involve the musculoskeletal system, with clubbed feet being the most common in up to 30% of reported cases.
Large reported series reveal an incidence between 5% and 15% of craniofacial malformations with clefting of the lip or palate.