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. simply 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 (see also treatment).

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 (or toes) 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 of 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 of the blood supply of the proximal extremity. The result will be that the developing toe or finger will become ischemic and will fall of. Because the end 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.

The differential diagnosis includes;

- Symbrachydactyly

- Chorionic villus sampling

- Congenital amputations

- Hypoplasias of hand, digit, thumb

- Adams-Oliver syndrome

- ADAM complex

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 (caused by constriction rings) 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”.

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 (congenital lymphedema)

3. Amputation of digits, arms and legs (congenital amputation)

A strong relationship between ABS and clubfoot (also called "talipes") exists. A 31.5% of associated clubfoot deformity and ABS can be correlated with 20% occurring bilaterally. Other abnormalities found with ABS include: clubhands, cleft lip, and/or cleft palate, and hemangioma.

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.

Amniotic band constriction (also known as "amniotic band syndrome", "ADAM complex", "Amniotic band sequence", "Congenital constriction bands" and "Pseudoainhum") is a congenital disorder caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero.

Syndactyly can be simple or complex.

- In simple syndactyly, adjacent fingers or toes are joined by soft tissue.

- In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly.

Syndactyly can be complete or incomplete.

- In complete syndactyly, the skin is joined all the way to the tip of the involved digits.

- In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits.

Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly.

Fenestrated syndactyly means the skin is joined for most of the digit but in a proximal area there is gap in the syndactyly with normal skin. This type of syndactyly is found in amniotic band syndrome.

Simple syndactyly can be full or partial, and is present at birth (congenital). In early human fetal development, webbing (syndactyly) of the toes and fingers is normal. At about 6 weeks of gestation, apoptosis takes place due to a protein named sonic hedgehog, also known as SHH, which dissolves the tissue between the fingers and toes, and the webbing disappears. In some fetuses, this process does not occur completely between all fingers or toes and some residual webbing remains.

This is a very rare situation, in which the extra digit is on the ring, middle or index finger. Of these fingers, the index finger is most often affected, whereas the ring finger is rarely affected.

This type of polydactyly can be associated with syndactyly, cleft hand and several syndromes.

Polysyndactyly presents various degrees of syndactyly affecting fingers three and four.

This is a less common situation, in which the affectation is on the side of the hand towards the thumb. Radial polydactyly refers to the presence of an extra digit (or extra digits) on the radial side of the hand. It is most frequent in Indian populations and it is the second most common congenital hand disorder. The incidence of radial polydactyly is reported as 1 in every 3,000 live births. The clinical features of radial polydactyly will depend upon the extent of duplication.

Radial polydactyly varies from a barely visible radial skin tag to complete duplication. Thumb polydactyly varies from barely visible broadening of the distal phalanx to full duplication of the thumb including the first metacarpal.

Radial polydactyly is frequently associated with several syndromes.

The following is a list of symptoms that have been associated with Roberts syndrome:

- Bilateral Symmetric Tetraphocomelia- a birth defect in which the hands and feet are attached to shortened arms and legs

- Prenatal Growth Retardation

- Hypomelia (Hypoplasia)- the incomplete development of a tissue or organ; less drastic than aplasia, which is no development at all

- Oligodactyly- fewer than normal number of fingers or toes

- Thumb Aplasia- the absence of a thumb

- Syndactyly- condition in which two or more fingers (or toes) are joined together; the joining can involve the bones or just the skin between the fingers

- Clinodactyly- curving of the fifth finger (little finger) towards the fourth finger (ring finger) due to the underdevelopment of the middle bone in the fifth finger

- Elbow/Knee Flexion Contractures- an inability to fully straighten the arm or leg

- Cleft Lip- the presence of one or two vertical fissures in the upper lip; can be on one side (unilateral) or on both sides (bilateral)

- Cleft Palate- opening in the roof of the mouth

- Premaxillary Protrusion- upper part of the mouth sticks out farther than the lower part of the mouth

- Micrognathia- small chin

- Microbrachycephaly- smaller than normal head size

- Malar Hypoplasia- underdevelopment of the cheek bones

- Downslanting Palpebral Fissures- the outer corners of the eyes point downwards

- Ocular Hypertelorism- unusually wide-set eyes

- Exophthalmos- a protruding eyeball

- Corneal Clouding- clouding of the front-most part of the eye

- Hypoplastic Nasal Alae- narrowing of the nostrils that can decrease the width of the nasal base

- Beaked Nose- a nose with a prominent bridge that gives it the appearance of being curved

- Ear Malformations

- Intellectual disability

- Encephalocele (only in severe cases)- rare defect of the neural tube characterized by sac-like protrusions of the brain

Mortality is high among those severely affected by Roberts syndrome; however, mildly affected individuals may survive to adulthood

Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans.

Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether Klippel–Feil syndrome is a unique disease, or if it is one part of a spectrum of congenital spinal deformities. Klippel–Feil syndrome is usually diagnosed after birth.

The most common sign of the disorder is restricted mobility of the neck and upper spine. A short neck and low hairline at the back of the head may occur in some patients.

Associated abnormalities may include:

- scoliosis (side-to-side curvature of the spine), which is abnormal curving of the spine. The spine sometimes appears as a "C" or an "S"

- spina bifida, when the spinal canal and the back bone do not close completely during birth

- anomalies of the kidneys and the ribs

- cleft palate (hole in the roof of the mouth)

- dental problems (late dentition, high-risk of caries, oligo- and hypodontia)

- respiratory problems

- heart malformations

- short stature

- Duane syndrome

- Approximately 35% of patients with Klippel–Feil syndrome will also have a congenital elevation of the scapula known as Sprengel's deformity

The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, fingers and heart defects. These heart defects often lead to a shortened life expectancy, the average being 35–45 years of age among males and 40–50 among females. This condition is similar to the heart failure seen in gigantism.

In 2011, a study identifying the occurrence of symptoms of 100 patients was published.

Ring 18 causes a wide range of medical and developmental concerns. As discussed above, people with ring 18 can have features of both distal 18q- and 18p-. The features of distal 18q- and 18p- vary greatly because of the variability of the deletion size and breakpoint locations between people. Because ring 18 can involve unique deletions of both the p and q arms of the chromosome there is twice as much reason for the variability between individuals. This variation is also partly attributable to the incidence of mosaicism, which is relatively common in people with ring 18.

- Holoprosencephaly has been reported in some people with ring 18. This is due to the deletion of the TGIF gene on the short arm of chromosome 18 in some people with ring 18.Approximately 30-40% of people with ring 18 have a congenital heart anomaly. Septal defects are the most common type of defect reported in this population.

- Hypotonia is frequently seen in the ring 18 population. Seizures, though uncommon, have been reported in people with ring 18.

- In some children without “classic” holoprosencephaly, microforms of holoprosencephaly may be noted on MRI, including missing olfactory tracts and bulbs and absent or hypoplastic corpus callosum.

- Strabismus as well as nystagmus have both been reported in infants and children with ring 18.

- Hearing loss has been reported and may be related to ear canal atresia or stenosis.

- Umbilical and inguinal hernias have been reported in a small number of people with ring 18.

- Unilateral renal hypoplasia and aplasia have both been reported in individuals with ring 18. Hydronephrosis as well as pyelonephritis have also been reported in a few individuals. Cryptorchidism, hypospadias, and micropenis have been seen in males with ring 18, while females have been reported with hypoplastic labia.

- Foot abnormalities are common within the ring 18 population. Scoliosis as well as pectus excavatum have also been frequently reported.

- Several people with ring 18 have growth hormone deficiency. Hypothyroidism has also been reported in a minority of people.

- Cognitive ability varies; according to a literature review, the degree of impairment may fall anywhere between the mild and severe ends of the spectrum.

- Facial features of ring 18 include low-set, dysplastic ears, epicanthic folds, and hypertelorism. Micrognathia has also been reported.

There is no consensus on what degree of angulation justifies a diagnosis, an incline between 15° and 30° is typical. A similar-sounding term, camptodactyly, is a fixed flexion deformity of a digit.

Ring 18 is a genetic condition caused by a deletion of the two tips of chromosome 18 followed by the formation of a ring-shaped chromosome. It was first reported in 1964.

Oligodactyly (from the Ancient Greek "oligos" meaning "few" and δάκτυλος "daktylos" meaning "finger") is the presence of fewer than five fingers or toes on a hand or foot.

It is quite often incorrectly called "hypodactyly", but the Greek prefixes and are used for scales (e.g. in hypoglycaemia and hypercholesterolemia). This as opposed to or scales, where and should be used (e.g. in oligarchy and polygamy). Oligodactyly is therefore the opposite of polydactyly. Very rare, this medical condition usually has a genetic or familial cause.

Oligodactyly is sometimes a sign or symptom of several syndromes including Poland syndrome and Weyer Ulnar Ray Syndrome. It is a type of Dysmelia.

Ectrodactyly is an extreme instance of oligodactyly, involving the absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.

People with oligodactyly often have full use of the remaining digits and adapt well to their condition. They are not greatly hindered in their daily activities, if at all. Even those with the most extreme forms are known to engage in tasks that require fine control, such as writing and bootmaking as well as working as a cab driver.

Vadoma people of Zimbabwe have a high frequency of oligodactyly.

Little is known about the natural history of Roberts syndrome due to its wide clinical variability. The prognosis of the disease depends on the malformations, as the severity of the malformations correlates with survival. The cause of death for most fatalities of Roberts syndrome have not been reported; however, five deaths were reportedly due to infection.

The following are observations that have been made in individuals with cytogenetic findings of PCS/HR or ESCO2 mutations:

- The symptom of prenatal growth retardation is the most common finding and can be moderate to severe. Postnatal growth retardation can also be moderate to severe and correlates with the degree of severity of limb and craniofacial malformations.

- In limb malformations, the upper limbs are typically more severely affected than the lower limbs. There have been many cases of only upper limb malformation.

- In hand malformations, the thumb is most often affected, followed by the fifth finger (the little finger). In severe cases, the patient may only have three fingers and in rare cases only one.

- In craniofacial malformations, mildly affected individuals will have no abnormalities of the palate. The most severely affected will have a fronto-ethmoid-nasal-maxillary encephalocele.

- The severity of limb malformations and craniofacial malformations is correlated.

- Other abnormalities can occur in different parts of the body, including:

- Heart- atrial septal defects, ventricular septal defects, patent ductus arteriosus

- Kidneys- polycystic kidney, horseshoe kidney

- Male Genitals- enlarged penis, cryptorchidism

- Female Genitals- enlarged clitoris

- Hair- sparse, silvery-blonde scalp hair

- Cranial Nerve Paralysis, Moyamoya disease, Stroke, Intellectual disability

Clinodactyly (from the Ancient Greek κλίνειν ' meaning "to bend" and δάκτυλος ' meaning "digit") is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger").

It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in certain genetic syndromes.

The most common symptoms are intellectual disability and recurrent seizures developing in infancy or early childhood. Typically the seizures are resistant to treatment with anti-epileptic drugs. Other symptoms may include:

- Microcephaly

- Lymphedema

- Facial abnormalities

- Immune deficiencies

- Abnormalities of retina

- Slow growth

- Short stature

The groove begins on the lower and internal side of the base of the fifth toe, usually according to the plantar-digital fold. The groove becomes gradually deeper and more circular. The rate of spread is variable, and the disease may progress to a full circle in a few months, or still be incomplete after years. In about 75 per cent both feet are affected, though not usually to the same degree. There is no case reported where it begins in any other toe than the fifth, while there is occasionally a groove on the fourth or third toe. The distal part of the toe swells and appears like a small “potato”. The swelling is due to lymphatic edema distal to the constriction. After a time crusts can appear in the groove which can be infected with staphylococcus.

While the groove becomes deeper, compression of tendons, vessels and nerves occurs. Bone is absorbed by pressure, without any evidence of infection. After a certain time all structures distal the stricture are reduced to an avascular cord. The toe’s connection to the foot becomes increasingly slender, and if it is not amputated, it spontaneously drops off without any bleeding. Normally it takes about five years for an autoamputation to occur.

Cole describes four stages of ainhum:

Pain is present in about 78% of cases. Slight pain is present in the earliest stage of ainhum, caused by pressure on the underlying nerves. Fracture of the phalanx or chronic sepsis is accompanied with severe pain.

Singleton Merten Syndrome is an autosomal dominate genetic disorder with variable expression with an onset of symptoms during childhood.

Clinical:

Patients often present with a history of fever of unknown origin, muscular weakness, poor development, abnormal dentition, normal serum calcium, phosphorus, and alkaline phosphatase levels. Associated clinical findings also include glaucoma, photosensitivity, heart block, foot deformities, and chronic psoriasiform skin lesions.

Radiological:

Classic radiologic findings were first described by Edward B. Singleton and David Merten in 1973.

Typical radiographic appearances include skeletal demineralization, expanded shafts of the metacarpals and phalanges with widenend medullary cavities, cardiomegaly, and intramural calcification of the proximal aorta with occasional extension into the aortic or mitral valves.

Other commonly seen radiographic findings include shallow acetabular fossa, subluxation of the femoral head, coxa valga, hypoplastic radial epiphysis, soft tissue calcifications between the radius and ulna, constriction of the proximal radial shaft, acro-osteolysis, and equinovarus foot deformities.

Cardiofaciocutaneous Syndrome (CFC syndrome) is an extremely rare and serious genetic disorder.

It is characterized by the following:

- Distinctive facial appearance

- Unusually sparse, brittle, curly scalp hair

- A range of skin abnormalities from dermatitis to thick, scaly skin over the entire body (generalized ichthyosis)

- Heart malformations (congenital or appearing later) especially an obstruction of the normal flow of blood from the lower right ventricle of the heart to the lungs (valvar pulmonary stenosis)

- Delayed growth

- Foot abnormalities (extra toe or fusion of two or more toes)

Ainhum (from Portuguese, pronounced "īn-yoom´", "i´num" or "ān´hum"; also known as dactylolysis spontanea) is a painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous autoamputation a few years later.

Klippel–Feil syndrome is a rare disease, initially reported in 1884 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any two of the seven cervical vertebrae.

The syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. Klippel-Feil results in limited movement of the neck. Klippel–Feil syndrome is sometimes identified by shortness of the neck, but not all people with this disorder have a visibly shortened neck. Some people with the syndrome have a very low hairline.

In 1919, in his PhD thesis, André Feil suggested another classification of the syndrome encompassing not only deformation of the cervical spine but also deformation of the lumbar and thoracic spine.

Infants with vascular rings typically present before 12 months with respiratory or esophageal symptoms like stridor, wheezing, cough, dysphagia, or difficulty feeding. The stridor improves with neck extension, differentiating from laryngomalacia which is relieved by prone or upright positioning, and will not be relieved with corticosteroids or epinephrine, unlike croup. Diagnosis requires a high degree of clinical suspicion and can be confirmed with barium contrast esophagogram for those with esophageal symptoms, bronchoscopy, or CT or MRI.

The two arches surround the esophagus and trachea which, if sufficiently constrictive, may cause breathing or swallowing difficulties despite medical therapies.

A less common ring is present with a right aortic arch instead of the usual left-sided aortic arch. This compresses the esophagus and trachea because of the persistence of a ductal ligament (from fetal circulation) that may connect between the aorta on the front and the left subclavian artery posteriorly going to the left arm.