How many people in the world have Myhre syndrome?

How many people in the world have Myhre syndrome?

Myhre syndrome is an extremely rare inherited disorder that, in theory, affects males and females in equal numbers. Fewer than 100 patients have been reported in the medical literature, but cases are being steadily published.

How do you pronounce Myhre syndrome?

Although the correct pronunciation of this Norwegian name is more like MEER-a or M-yureh, Dr. Myhre used a version common in the United States, MY-ree.

What is Meyer disease?

Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly (a misshapen forehead due to premature fusion of bones in the skull).

What causes Costello Syndrome?

Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division . Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active).

How common is Myhre syndrome?

Myhre syndrome is a rare disorder; its prevalence is unknown. Almost 100 cases have been documented in the medical literature.

Who discovered Usher syndrome?

Usher syndrome was first described in 1858 by Albrecht Von Graefe, but was named for Charles Usher, a Scottish eye doctor who identified the disorder’s hereditary nature and recessive inheritance pattern.

What is floating Harbour syndrome?

Summary. Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder characterized by a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive and receptive language delays. Children may be below average height for their age (short stature).

What are the characteristics of Williams syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.

How is Shay disease?

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

How is Costello Syndrome diagnosed?

Costello syndrome is diagnosed by clinical examination and specific diagnostic criteria have been developed. Molecular genetic testing for mutations in the HRAS gene is available to confirm the diagnosis. Most clinically affected individuals have an identifiable HRAS mutation.

What is Diastrophic dwarfism?

Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement.

What are the clinical characteristics of Myhre syndrome?

Clinical characteristics: Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild-to-moderate intellectual disability, and in some instances, autistic-like behaviors.

Are there any known cures for Myhre syndrome?

Affected individuals often have problems with the cardiovascular and respiratory systems. Some of these problems gradually get worse and can lead to potentially life-threatening complications. Currently there is no cure. Every person who has Myhre syndrome is slightly different. Some common characteristics include:

Can a person with Myhre syndrome get cancer?

People with Myhre syndrome also may have an increased risk of developing cancerous or noncancerous tumors, including cancer of the lining of the uterus (endometrial cancer). Myhre syndrome is a rare disorder; its prevalence is unknown. Almost 100 cases have been documented in the medical literature.

When does hearing loss occur in Myhre syndrome?

Hearing loss occurs in most people with Myhre syndrome, usually beginning in childhood and gradually worsening. If not detected promptly, hearing problems can contribute to learning and behavioral problems. Fibrosis in Myhre syndrome can occur in the absence of injury (spontaneously) or develop following surgery or trauma.