Is Robinow syndrome congenital or developmental?
Robinow syndrome is an extremely rare inherited disorder that affects development of the bones and other parts of the body. There are two forms of Robinow syndrome that are distinguished by signs and symptoms, severity, mode of inheritance, and the genes associated with them.
What are the two forms of Robinow syndrome?
Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity.
How many people have aarskog?
Affected Populations An estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.
What is Beckwith Wiedemann syndrome?
Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition disorder. BWS is caused by changes on chromosome 11p15. 5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person.
How common is Costello syndrome?
This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people.
What are the symptoms of Robinow Silverman Smith syndrome?
The following medical conditions are associated with Robinow-Silverman-Smith syndrome: 1 Ear infection. 2 Hearing loss. 3 Hypotonia. 4 Respiratory problems. 5 Eating difficulties. 6 (more items)
What are the different types of Robinow syndrome?
Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished by the severity of their signs and symptoms and by their pattern of inheritance: autosomal recessive or autosomal dominant.
Who was the first person to discover Robinow syndrome?
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D.
Is there a life expectancy for Robinow syndrome?
Robinow Syndrome Life Expectancy. Children born with the recessive form of this hereditary disorder may die during infancy and early childhood. However, early diagnosis and prompt treatment can help them to have a long life span. Individuals suffering from the dominant type of this kind of dwarfism generally have a normal life expectancy.