There are a few different classifications conceived to categorize the spectrum of variety of congenital clasped thumb. In literature X classifications have been described for clasped thumb. The two most relevant of the existing classifications, to our opinion, are the classifications of McCarrol and Tjuyuguchi et al.

The most global format is the classification of McCarrol, which divides the congenital clasped thumbs into two groups. Group I includes the supple clasped thumb, when the thumb is only passively correctable. While complex clasped thumbs, thumbs which cannot be moved neither passively or actively, belong to group II.

Tjuyuguchi et al. designed a classification existing of three groups:

- Group I: The supple clasped thumb, where the thumb is passively abductable and extendable against the resistance of thumb flexors, without other digital anomalies.

- Group II: The clasped thumb with hand contractures, where the thumb is not passively extendable and abductable, with or without other digital anomalies.

- Group III: The clasped thumb which is associated with arthrogryposis.

A diagnosis can be made by an evaluation of medical history and clinical observation. The Beighton criteria are widely used to assess the degree of joint hypermobility. DNA and biochemical studies can help identify affected individuals. Diagnostic tests include collagen gene mutation testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity. However, these tests are not able to confirm all cases, especially in instances of an unmapped mutation, so clinical evaluation by a geneticist remains essential. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study. There is poor knowledge about EDS among practitioners.

In terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing, as well as the following listed below:

- CT

- MRI

- Echocardiogram

- Physical exam(for specific characteristics)

For most cases the diagnosis for congenital amputation is not made until the infant is born. One procedure that is helpful in determining this condition in an infant is an ultrasound examination of a fetus when still in the mother's abdomen as it can reveal the absence of a limb. However, since ultrasounds are routine they may not pick up all the signs of some of the more subtle birth defects.

The most popular method of treatment for congenital amputation is having the child be fit for a prosthesis which can lead to normal development, so the muscles don't atrophy. If there is congenital amputation of the fingers, plastic surgery can be performed by using the big toe or second toes in place of the missing fingers of the hand.

In rare cases of amniotic banding syndrome, if diagnosed "in utero", fetal surgery may be considered to save a limb which is in danger of amputation.

The treatment of arterial tortuosity syndrome entails possible surgery for aortic aneurysms, as well as, follow ups which should consist of EGC. The prognosis of this condition has it at about 12% mortality

Beals syndrome (congenital contractural arachnodactyly, Beals–Hecht syndrome) is a rare congenital connective tissue disorder. Beals syndrome has only recently been described as a syndrome distinct from Marfan's syndrome. Ricky Berwick is an internet star with this disease.

It was characterized in 1972.

It is associated with FBN2.

It is caused by a mutation in FBN2 gene on chromosome 5q23. Contractures of varying degrees at birth, mainly involving the large joints, are present in all affected children. Elbows, knees and fingers are most commonly involved. The contractures may be mild and tend to reduce in severity, but residual camptodactyly always remains present. The arm span exceeds body height but the discrepancy may be underestimated due to contractures of elbows and fingers. The same holds for the lower body portion with knee contractures. The most serious complication in CCA is scoliosis and sometimes kyphoscoliosis mandating surgery.

Treatment of congenital clasped thumb includes two types of therapy: conservative and surgical.

Studies suggest that prenatal care for mothers during their pregnancies can prevent congenital amputation. Knowing environmental and genetic risks is also important. Heavy exposure to chemicals, smoking, alcohol, poor diet, or engaging in any other teratogenic activities while pregnant can increase the risk of having a child born with a congenital amputation. Folic acid is a multivitamin that has been found to reduce birth defects.

Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs.

An example is polydactyly.

During pregnancy, even in the absence of preconception cardiovascular abnormality, women with Marfan syndrome are at significant risk of aortic dissection, which is often fatal even when rapidly treated. Women with Marfan syndrome, then, should receive a thorough assessment prior to conception, and echocardiography should be performed every six to 10 weeks during pregnancy, to assess the aortic root diameter. For most women, safe vaginal delivery is possible.

Marfan syndrome is expressed dominantly. This means a child with one parent a bearer of the gene has a 50% probability of getting the syndrome. In 1996, the first preimplantation genetic testing (PGT) therapy for Marfan was conducted; in essence PGT means conducting a genetic test on early-stage IVF embryo cells and discarding those embryos affected by the Marfan mutation.

In 2010 the Ghent nosology was revised, and new diagnostic criteria superseded the previous agreement made in 1996. The seven new criteria can lead to a diagnosis:

In the absence of a family history of MFS:

1. Aortic root Z-score ≥ 2 AND ectopia lentis

2. Aortic root Z-score ≥ 2 AND an FBN1 mutation

3. Aortic root Z-score ≥ 2 AND a systemic score* > 7 points

4. Ectopia lentis AND an FBN1 mutation with known aortic pathology

In the presence of a family history of MFS (as defined above):

1. Ectopia lentis

2. Systemic score* ≥ 7

3. Aortic root Z-score ≥ 2

- Points for systemic score:

- Wrist AND thumb sign = 3 (wrist OR thumb sign = 1)

- Pectus carinatum deformity = 2 (pectus excavatum or chest asymmetry = 1)

- Hindfoot deformity = 2 (plain pes planus = 1)

- Dural ectasia = 2

- Protrusio acetabuli = 2

- pneumothorax = 2

- Reduced upper segment/lower segment ratio AND increased arm/height AND no severe scoliosis = 1

- Scoliosis or thoracolumbar kyphosis = 1

- Reduced elbow extension = 1

- Facial features (3/5) = 1 (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia)

- Skin striae (stretch marks) = 1

- Myopia > 3 diopters = 1

- Mitral valve prolapse 1⁄4 1

The thumb sign (Steinberg's sign) is elicited by asking the patient to flex the thumb as far as possible and then close the fingers over it. A positive thumb sign is where the entire distal phalanx is visible beyond the ulnar border of the hand, caused by a combination of hypermobility of the thumb as well as a thumb which is longer than usual.

The wrist sign (Walker's sign) is elicited by asking the patient to curl the thumb and fingers of one hand around the other wrist. A positive wrist sign is where the little finger and the thumb overlap, caused by a combination of thin wrists and long fingers.

A 2007 study followed 112 individuals for a mean of 12 years (mean age 25.3, range 12–71). No patient died during follow-up, but several required medical interventions. The mean final heights were 167 and 153 cm for men and women, respectively, which is approximately 2 standard deviations below normal.

Electrophysiological evidence of denervation with intact motor and sensory nerve conduction findings must be made by using nerve conduction studies, usually in conjunction with EMG. The presence of polyphasic potentials and fibrillation at rest are characteristic of congenital dSMA.

The following are useful in diagnosis:

- Nerve conduction studies (NCS), to test for denervation

- Electromyography (EMG), also to detect denervation

- X-ray, to look for bone abnormalities

- Magnetic resonance imaging (MRI)

- Skeletal muscle biopsy examination

- Serum creatine kinase (CK) level in blood, usually elevated in affected individuals

- Pulmonary function test

There is no known cure for Ehlers–Danlos syndrome. Treatment is palliative. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. This can help with stabilizing the joints and prevent injury. Orthopedic instruments are helpful for the prevention of further joint damage, especially for long distances, although it is advised that individuals not become entirely dependent on them until there are no other options for mobility. One should avoid activities that cause the joint to lock or overextend.

A physician may prescribe casting to stabilize joints. Physicians may refer a patient to an orthotist for orthotic treatment (bracing). Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints.

There are different types of physiotherapy. Aquatic therapy promotes muscular development and coordination. With manual therapy, the joint will be gently mobilized within the range of motion and/or manipulations.

If conservative therapy is not helpful, surgical repair of joints may be necessary. Medication to decrease pain or manage cardiac, digestive, or other related conditions may be prescribed. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C). Special precautions are often taken by medical care workers because of the sheer amount of complications that tend to arise in EDS patients. In Vascular EDS, signs of chest or abdominal pain are to be considered trauma situations.

In general, medical intervention is limited to symptomatic therapy. Before pregnancy, patients with EDS should have genetic counseling and familiarize themselves with the risks to their own bodies that pregnancy poses. Children with EDS should be provided with information about the disorder so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Patients may find it hard to cope with the drawbacks of the disease. In this case, emotional support and behavioral and psychological therapy can be useful. Support groups can be immensely helpful for patients dealing with major lifestyle changes and poor health. Family members, teachers, and friends should be informed about EDS so they can accept and assist the child.

First trimester ultrasound of noonan syndrome reveals nuchal oedema / cystic hygroma almost same as seen in Turner syndrome. Follow up scans may shows clinical features that already described above.

A study shows this disease is also associated with hepato splenomegaly with renal anomalies including malrotation and solitary kidney. A rare incidence of choledochal cyst is also reported as well.

The only treatment for MWS is only symptomatic, with multidisciplinary management

Arachnodactyly ("spider fingers") or achromachia is a condition in which the fingers and toes are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. Also, the individual's thumbs tend to also be pulled inwards towards the palm. It can be present at birth or develop in later life.

Sufferers usually have long, thin fingers and toes with contractures preventing straightening and limiting movement. Contractures also affect hips, elbows, knees and ankles. They also have unusual external ears that appear crumpled. Contractures may be present from birth and may appear as a club foot. Long bone fractures may also form a part of the syndrome, though the evidence for this is limited to the case report level.

It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease.

There have been 30 cases of Marden-Walker Syndrome reported since 1966. The first case of this was in 1966 a female infant was diagnosed with blepharophimosis, joint contractures, arachnodactyly and growth development delay. She ended up passing at 3 months due to pneumonia.

Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene.

Congenital dSMA has a relatively stable disease course, with disability mainly attributed to increased contractures rather than loss of muscle strength. Individuals frequently use crutches, knee, ankle, and/or foot orthoses, or wheelchairs. Orthopaedic surgery can be an option for some patients with severely impaired movement. Physical therapy and occupational therapy can help prevent further contractures from occurring, though they do not reverse the effects of preexisting ones. Some literature suggests the use of electrical stimulation or botulinum toxin to halt the progression of contractures.

Achard syndrome is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity. It is clinically similar to Marfan syndrome.

This syndrome is associated with microcephaly, arthrogryposis and cleft palate and various craniofacial, respiratory, neurological and limb abnormalities, including bone and joint defects of the upper limbs, adducted thumbs, camptodactyly and talipes equinovarus or calcaneovalgus. It is characterized by craniosynostosis, and myopathy in association with congenital generalized hypertrichosis.

Patients with the disease are considered intellectually disabled. Most die in childhood. Patients often suffer from respiratory difficulties such as pneumonia, and from seizures due to dysmyelination in the brain's white matter. It has been hypothesized that the Moro reflex (startle reflex in infants) may be a tool in detecting the congenital clapsed thumb early in infancy. The thumb normally extends as a result of this reflex.

Marfanoid (or Marfanoid habitus) is a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that exceeds the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.

Associated conditions include:

- Multiple endocrine neoplasia type 2B

- Homocystinuria

- Ehlers-Danlos syndrome

- Possibly Asperger syndrome