The diagnosis of this syndrome can be done via the test "Branchiootorenal syndrome via the SIX5 Gene" whose purpose is mutation confirmation and risk assessment (screening).

No specific work up is defined. Stenosing tenosynovitis is a clinical diagnosis. However, if rheumatoid arthritis is suspected, laboratory evaluation of is granted (e.g. rheumatoid factor). Imaging studies are not needed to diagnose the condition. However, they can be valuable adjuvants to achieve a diagnosis. An ultrasound or MRI ( the most reliable study) can demonstrate increased thickness of the involved tendons. Thickening and hyper-vascularization of the pulley are the hallmarks of trigger fingers on sonography.

In terms of diagnosis of HNPP measuring nerve conduction velocity may give an indication of the presence of the disease.Other methods via which to ascertain the diagnosis of hereditary neuropathy with liability to pressure palsy are:

- Family history

- Genetic test

- Physical exam(lack of ankle reflex)

Carrier testing for Roberts syndrome requires prior identification of the disease-causing mutation in the family. Carriers for the disorder are heterozygotes due to the autosomal recessive nature of the disease. Carriers are also not at risk for contracting Roberts syndrome themselves. A prenatal diagnosis of Roberts syndrome requires an ultrasound examination paired with cytogenetic testing or prior identification of the disease-causing ESCO2 mutations in the family.

Diagnosis is made based on features as well as by the very early onset of serious eye and ear disease. Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. There are no tests for Stickler syndrome or Marshall syndrome. Some families with Stickler syndrome have been shown to have mutations in the Type II collagen gene on chromosome 1. However, other families do not show the linkage to the collagen gene. It is an area of active research, also the genetic testing being expensive supports that the diagnosis is made depending on the features.

If a contracture is less than 30 degrees, it may not interfere with normal functioning. The common treatment is splinting and occupational therapy. Surgery is the last option for most cases as the result may not be satisfactory.

Initial screening for CIP/CIM may be performed using an objective scoring system for muscle strength. The Medical Research Council (MRC) score is one such tool, and sometimes used to help identify CIP/CIM patients in research studies. The MRC score involves assessing strength in 3 muscle groups in the right and left sides of both the upper and lower extremities. Each muscle tested is given a score of 0-5, giving a total possible score of 60. An MRC score less than 48 is suggestive of CIP/CIM. However, the tool requires that patients be awake and cooperative, which is often not the case. Also, the screening tool is non-specific, because it does not identify the cause a person's muscle weakness.

Once weakness is detected, the evaluation of muscle strength should be repeated several times. If the weakness persists, then a muscle biopsy, a nerve conduction study (electrophysiological studies), or both should be performed.

Cytogenetic preparations that have been stained by either Giemsa or C-banding techniques will show two characteristic chromosomal abnormalities. The first chromosomal abnormality is called premature centromere separation (PCS) and is the most likely pathogenic mechanism for Roberts syndrome. Chromosomes that have PCS will have their centromeres separate during metaphase rather than anaphase (one phase earlier than normal chromosomes). The second chromosomal abnormality is called heterochromatin repulsion (HR). Chromosomes that have HR experience separation of the heterochromatic regions during metaphase. Chromosomes with these two abnormalities will display a "railroad track" appearance because of the absence of primary constriction and repulsion at the heterochromatic regions. The heterochromatic regions are the areas near the centromeres and nucleolar organizers. Carrier status cannot be determined by cytogenetic testing. Other common findings of cytogenetic testing on Roberts syndrome patients are listed below.

- Aneuploidy- the occurrence of one or more extra or missing chromosomes

- Micronucleation- nucleus is smaller than normal

- Multilobulated Nuclei- the nucleus has more than one lobe

The treatment of branchio-oto-renal syndrome is done per each affected area (or organ). For example, a person with hearing problems should have appropriate supports and prompt attention for any inflammation of the ear.

A specialist should observe any kidney problems. Surgical repair may be needed depending on the degree of a defect or problem, whether a transplant or dialysis is needed.

Many professionals that are likely to be involved in the treatment of those with Stickler's syndrome, include anesthesiologists, oral and maxillofacial surgeons; craniofacial surgeons; ear, nose, and throat specialists, ophthalmologists, optometrists, audiologists, speech pathologists, physical therapists and rheumatologists.

There is no medical treatment for either syndrome but there are some recommendations that can help with prevention or early identification of some of the problems. Children with either syndrome should have their hearing tested, and adults should be aware that the hearing loss may not develop until the adult years. Yearly visits to an ophthalmologist or other eye care professional who has been informed of the diagnosis of Stickler or Marshall syndrome is important for all affected individuals. Children should have the opportunity to have myopia corrected as early as possible, and treatment for cataracts or detached retinas may be more effective with early identification. Support for the joints is especially important during sports, and some recommend that contact sports should be avoided by those who have very loose joints.

The serum creatine phosphokinase (CPK) can be mildly elevated. While the CPK is often a good marker for damage to muscle tissue, it is not a helpful marker in CIP/CIM, because CIP/CIM is a gradual process and does not usually involve significant muscle cell death (necrosis). Also, even if necrosis is present, it may be brief and is therefore easily missed. If a lumbar puncture (spinal tap) is performed, the protein level in the cerebral spinal fluid would be normal.

In terms of diagnosing Bannayan–Riley–Ruvalcaba syndrome there is no current method outside the physical characteristics that may be present as signs/symptoms. There are, however, multiple molecular genetics tests (and cytogenetic test) to determine Bannayan–Riley–Ruvalcaba syndrome.

Respiratory complications are often cause of death in early infancy.

Marshall–Smith syndrome is not to be confused with:

- Marshall syndrome (aka.Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome, see also: Periodic fever syndrome)

- Sotos (like) syndrome

- Weaver-Smith syndrome (WSS)

If severe pain persists after the first 24hours it is recommended that an individual consult with a professional who can make a diagnosis and implement a treatment plan so the patient can return to everyday activities (Flegel, 2004). These are some of the tools that a professional can use to help make a full diagnosis;

Nerve conduction studies may also be used to localize nerve dysfunction ("e.g.", carpal tunnel syndrome), assess severity, and help with prognosis.

Electrodiagnosis also helps differentiate between myopathy and neuropathy.

Ultimately, the best method of imaging soft tissue is magnetic resonance imaging (MRI), though it is cost-prohibitive and carries a high false positive rate.

CMT can be diagnosed through symptoms, through measurement of the speed of nerve impulses (nerve conduction studies), through biopsy of the nerve, and through DNA testing. DNA testing can give a definitive diagnosis, but not all the genetic markers for CMT are known. CMT is first noticed when someone develops lower leg weakness, such as foot drop; or foot deformities, including hammertoes and high arches. But signs alone do not lead to diagnosis. Patients must be referred to a physician specialising in neurology or rehabilitation medicine. To see signs of muscle weakness, the neurologist asks patients to walk on their heels or to move part of their leg against an opposing force. To identify sensory loss, the neurologist tests for deep tendon reflexes, such as the knee jerk, which are reduced or absent in CMT. The doctor also asks about family history, because CMT is hereditary. The lack of family history does not rule out CMT, but helps rule out other causes of neuropathy, such as diabetes or exposure to certain chemicals or drugs.

In 2010, CMT was one of the first diseases where the genetic cause of a particular patient's disease was precisely determined by sequencing the whole genome of an affected individual. This was done by the scientists employed by the Charcot Marie Tooth Association (CMTA) Two mutations were identified in a gene, SH3TC2, known to cause CMT. Researchers then compared the affected patient's genome to the genomes of the patient's mother, father, and seven siblings with and without the disease. The mother and father each had one normal and one mutant copy of this gene, and had mild or no symptoms. The offspring that inherited two mutant genes presented fully with the disease.

CMT is a result of genetic mutations in a number of genes. Based on the affected gene, CMT can be categorized into types and subtypes.

There is no current treatment, however management of hereditary neuropathy with liability to pressure palsy can be done via:

- Occupational therapist

- Ankle/foot orthosis

- Wrist splint (medicine)

- Avoid repetitive movements

Diagnosis is mostly clinical and radiological. Technetium skeletal scintigrams are occasionally used to determine number of exostoses.

Genetic changes are related to the following types of Stickler syndrome:

- Stickler syndrome, COL2A1 (75% of Stickler cases)

- Stickler syndrome, COL11A1

- Stickler syndrome, COL11A2 (non-ocular)

- Stickler syndrome, COL9A1 (recessive variant)

Whether there are two or three types of Stickler syndrome is controversial. Each type is presented here according to the gene involved. The classification of these conditions is changing as researchers learn more about the genetic causes.

Shabbir syndrome (also known as laryngo–onycho–cutaneous syndrome) is a cutaneous condition inherited in an autosomal recessive fashion.

It was characterized by Shabbir in 1986.

It may be associated with "LAMA3".

Splinting, non-steroidal anti inflammatory drugs (NSAIDs), and corticosteroid injections are regarded as conservative first-line treatments for stenosing tenosynovitis. However, NSAIDs have been found to be ineffective as a monotherapy. Early treatment of trigger thumb has been associated with better treatment outcomes. Surgical treatment of trigger thumb can be complicated by injury to the digital nerves, scarring, tenderness, or a contracture of the joint. A significantly higher rate of symptom improvement has been observed when surgical management is paired with corticosteroid injections when compared to corticosteroid injections alone.

Occupational therapy is based on relieving the symptoms and reducing the inflammation. Overall cure rate, for dutifully applied non-operative treatment, is over 95% [citation needed]. Several modalities of treatment exists, depending on the chronicity and severity of the condition.

- Modification of hand activities

- Exercise & stretching

- Local heat

- Extension splinting during sleep (custom metacarpophalangeal joint (MCP joint) blocking splint, which has reported better patient's symptomatic relief and functionality and a distal interphalangeal (DIP) joint blocking splint)

Treatment consists of injection of methylprednisolone often combined with anesthetic (lidocaine) at the site of maximal inflammation or tenderness. The infiltration of the affected site can be performed blinded or sonographically guided, and often needs to be repeated 2 or three times to achieve remission. An irreducibly locked trigger, often associated with a flexion contracture of the PIP joint, should not be treated by injections.

- Transection of the fibrous annular pulley of the sheath

For symptoms that have persisted or recurred for more than 6 months and/or have been unresponsive to conservative treatment, surgical release of the pulley may be indicated. The main surgical approaches are percutaneous release and open release. The percutaneous approach, is preferred in some centers due to its reported shorter time of recuperation of motor function, less complications, and less painful. Complication of the surgical management include, persistent trigger finger, bowstringing, digital nerve injury, and continued triggering.

Of note, diabetes seems to be a poor prognostic indicator for nonoperative treatment and may develop stiffness after surgical release.

Branchio-oculo-facial syndrome is difficult to diagnose because it has incomplete penetrance. It is often misdiagnosed as branchio-oto-renal syndrome because of their similarities in symptoms.

Townes–Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. The condition was first identified in 1972. by Philip L. Townes, MD, PhD, who was at the time a human geneticists and Professor of Pediatrics, and Eric Brocks, MD, who was at the time a medical student, both at the University of Rochester.