Self study

Selfstudy by Questionnaires and Scorecards

Nobody with Kleefstra syndrome is the same! It is important to understand how healthy you are and who you are! Our community provides questionnaires and scorecards that help you to discover how Kleefstra syndrome has impacted your life, how you develop.
When you discover which aspects of Kleefstra syndrome impact your life, we will provide links to fitting information to allow you to develop your personal health system. This saves you from digesting information you do not need directly, keeping your head free, to allow you to enjoy life and give you just that little bit of extra support.

Because if there is something typical for families with a care-intensive person having Kleefstra syndrome, is that you will see similarities with others having Kleefstra syndrome, but that you will also see where you are special. Finding your friend that really matches your lifestyle, has dealt with the same challenges can be improved by finding these people with Kleefstra syndrome that have approximately provided the same answers to our questionnaires and have similar scorecards.

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).


Deepen your knowledge of Kleefstra syndrome

We organize our data about Kleefstra syndrome in topics. You can browse our topics below. Below each topic you might find more detailed topics with data that might be of interest to you.

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