Skip to main content
MENU

Putting a Spotlight On

Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disability. Learn more below.


What is Kleefstra Syndrome ?

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).  

What are the signs of Kleefstra?

Individuals with Kleefstra have unusually small head sizes (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.

Individuals 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).

 

How is Kleefstra diagnosed?

Diagnosis of KS is determined by the presence of the characteristic clinical features and molecular genetic testing.

 

What services are available for individuals with Kleefstra?

 Ongoing routine care by a multidisciplinary team specializing in the care of children or adults with intellectual disability. Referral to age-appropriate early-childhood intervention programs, special education programs, or vocational training; speech/language therapy, physical and occupational therapy, and sensory integration therapy; specialized care for those with extreme behavior problems, movement disorders, sleep disorders, and/or epilepsy; standard treatment for vision, hearing, cardiac, renal, urologic, and other medical issues.

 

Resources/References:

https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome

https://www.ncbi.nlm.nih.gov/books/NBK47079/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261494https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261494

 

 

 

 

 

 

 

 

 

 

 


Spotlight Archive