Informazioni

Information

Our information is written for and by people around Kleefstra syndrome, so we know what we are talking about. We search for information, rewrite them to be understandable and share them. And share relevant news about Kleefstra syndrome by readable articles. In this way we want to inform families, make the feel empowered to educate the cure- and care-people or give them just that little bit of support.

Because if there is something important for families with a care-intensive person like Kleefstra syndrome, it is that the family remain upright. And that is what we, as community around Kleefstra syndrome, are committed to doing with heart and soul.

Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Affected individuals may have a high birth weight and childhood obesity.

People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia).


Approfondisci la tua conoscenza di Kleefstra syndrome

Organizziamo i nostri information su Kleefstra syndrome in argomenti. Puoi sfogliare i nostri argomenti qui sotto. Sotto ogni argomento potresti trovare argomenti più dettagliati con information che potrebbero essere di tuo interesse.

{{warning}} waihonapedia.diseases.no.information {{/warning}}

About the website contents

 

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: wiki@waihonapedia.org