Cohen syndrome and two VPS13B mutations Patients presenting Cohen syndrome without a VPS13B mutation Patients presenting neutropenia Primary Outcome Measures : spectrum of mutations VPS13B [ Time Frame: baseline ] Information from the National Library [clinicaltrials.gov]

Welcome to Cohen Syndrome Association Welcome to Cohen Syndrome Association Cohen Syndrome is a rare genetic disorder associated with mutations present at COH1 within chromosome 8 and is often undiagnosed for many years. [cohensyndrome.org]

Growth While low birth weight and short stature may be present, they are not essential features. Truncal obesity may develop in teenage years. [cureus.com]

In many older patients, obesity is present, especially around the torso and is associated with slender arms and legs. A lowered level of certain white blood cells known as neutrophils (neutropenia) is present from birth in some affected individuals. [rarediseases.org]

When obesity is present, it typically occurs around the torso, with the arms and legs remaining slender (called truncal obesity). Individuals with Cohen syndrome may also have narrow hands and feet, and slender fingers. [medlineplus.gov]

• Weight Gain

  Growth and puberty The mean birth weight was 2800 g (range 2000–3700 g), corresponding to the 3rd centile for gestation. Most parents described an exaggerated weight gain, particularly in the truncal region, in mid-childhood. [jmg.bmj.com]

• Precocious Puberty

  Endocrine Delayed onset of puberty is typical [2]. North et al. described identical twin girls with Cohen syndrome with precocious puberty, although this is not typical [35]. [cureus.com]

• Failure to Thrive

  Some infants may exhibit a failure to gain weight and grow as would otherwise be expected based upon gender and age (failure to thrive). [rarediseases.org]

• Genu Valgum

  Various other musculoskeletal deformities may be seen, including cubitus valgus, genu valgum, pes planovalgus, kyphosis, scoliosis, ligamentous laxity, and articular hypermobility, many being secondary to underlying muscular hypotonia. [cureus.com]

Treatment strategies include the use of chemical drugs as well as gene therapy. [orphandiseasecenter.med.upenn.edu]

However, the exact function of VPS13B is unknown and no treatment is available. This gene plays a role in the structural integrity of a cellular organelle, the Golgi apparatus. [irbbarcelona.org]

Treatment options that may be used to treat individuals with Cohen syndrome are complex and varied. The specific treatment plan will need to be highly individualized. [rarediseases.org]

However, there is no available effective treatment to halt the progression of pigmentary retinopathy. Patients should have periodic and detailed ophthalmologic exams to evaluate for refractive errors or retinal dystrophy. [cureus.com]

What Is the Prognosis for a Person with Cohen Syndrome? The exact effect of Cohen syndrome on one's lifespan is unclear. Some people with the disease are known to be alive in their fifties. [myriad.com]

Several factors including the small number of identified cases and the lack of large clinical studies, prevent physicians from developing a complete picture of associated symptoms and prognosis. [rarediseases.org]

This is important not only for the patient, who will benefit from the appropriate intervention by a multidisciplinary team, but also for the families who can be accurately counselled regarding cause, prognosis, and recurrence risks. [jmg.bmj.com]

Most mutations in the VPS13B gene are believed to prevent the production of functional VPS13B protein. Studies suggest that a loss of this protein disrupts the organization of the Golgi apparatus and impairs normal glycosylation. [medlineplus.gov]

Several factors including the small number of identified cases and the lack of large clinical studies, prevent physicians from developing a complete picture of associated symptoms and prognosis. [rarediseases.org]