Everything about Catel-manzke Syndrome totally explained
Catel-Manzke syndrome is a rare
genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of
Pierre Robin syndrome; occasionally with additional physical findings.
Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small
jaw (
Micrognathia), downward displacement or retraction of the
tongue (
Glossoptosis), and incomplete closure of the roof of the mouth (Cleft palate).
Presentation
Infants with Catel-Manzke syndrome have an extra (supernumerary), irregularly shaped bone known as a
Hyperphalangy located between the first bone of the index finger (
proximal phalanx) and the corresponding
bone within the body of the hand (second
metacarpal). As a result, the index fingers may be fixed in an abnormally bent position (
clinodactyly). In some rare cases, additional abnormalities of the hands may also be present. Due to the presence of
micrognathia,
glossoptosis, and
cleft palate, affected infants may have feeding and breathing difficulties; growth deficiency; consistent middle
ear infections (
otitis media); and other complications.
In addition, some infants with the syndrome may have structural abnormalities of the
heart that are present at birth (congenital heart defects). The range and severity of symptoms and findings may vary from case to case. Catel-Manzke syndrome usually appears to occur randomly, for unknown sporadic reasons.
Genetic prevalence
Currently there's only around 26 people in the world to have this rare condition. Inheritance is thought to be
X-linked recessive.
Further Information
Get more info on 'Catel-manzke Syndrome'.
|
External Link Exchanges
Do you know how hard it is to get a link from a large encyclopaedia? Well we're different and will prove it. To get a link from us just add the following HTML to your site on a relevant page:
<a href="http://catel-manzke_syndrome.totallyexplained.com">Catel-Manzke syndrome Totally Explained</a>
Then simply click through this link from your web page. Our crawlers will verify your link, extract the title of your web page and instantly add a link back to it. If you like you can remove the words Totally Explained and embed the link in article text.
As long as your link remains in place, we'll keep our link to you right here. Please play fair - our crawlers are watching. Your site must be closely related to this one's topic. Any kind of spamming, dubious practises or removing the link will result in your link from us being dropped and, potentially, your whole site being banned. |
