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).

How does Kleefstra Syndrome affect my child?

 
Affected individuals also have distinctive facial features. 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). 

Is there a distinct look for children with Kleefstra Syndrome? Children with Kleefstra syndrome tend to look alike and have distinctive facial features, which may include several of the following features:
Microcephaly (small head size)	Brachycephaly (wide, short skull)
Eyebrows that grow together in the middle	Hypertelorism (widely spaced eyes)
Midface hypoplasia (sunken appearance of the middle of the face)	Anteverted nares  (nostrils that open to the front rather than downward)
Prognathism (a protruding jaw)	Rolled out (everted) lips
Macroglossia (large tongue)

FDNA and Kleefstra Syndrome

Children with this syndrome often remain under-diagnosed because its extreme rarity, lack the relevant family history does not trigger suspicion in most of the cases, or misdiagnosed, since this syndrome shares distinct external features (phenotype) as exhibited with a other syndromes.

Using FDNA’s service increases the chances of detecting distinct characteristics, which, when prompt to a geneticist can assist in reaching the right medical diagnosis. Start your child's genetic evaluation with a facial analysis.

What additional medical issues should be considered in association with Kleefstra Syndrome?

 
Children with Kleefstrax also tend to suffer from one or more of the following problems:

• Intellectual disability, usually moderate to severe and associated with severe speech delay
• Distinctive facial features
• Childhood hypotonia (low muscle tone)
• Motor delay
• Heart defects
• Renal/urologic defects
• Genital defects (males)
• Severe infections (due to respiratory abnormalities)
• Epilepsy/febrile seizures
• Autistic-like features in childhood
• Extreme apathy or catatonic(-like) features postpubertally
• Structural brain abnormalities

How common is Kleefstra Syndrome?

 
The prevalence of Kleefstra syndrome is unknown. Only recently has testing become available to distinguish it from other disorders with similar features.

What causes Kleefstra Syndrome?

 
Kleefstra syndrome, caused by specific changes in genes, is inherited in an autosomal dominant manner. Almost all cases reported to date are new mutations; rarely, recurrence in a family has been reported.

How is Kleefstra Syndrome diagnosed?

 
Diagnosis is suspected according to signs and symptoms and can be confirmed through a genetic test

How is Kleefstra Syndrome treated?

 
While there is no cure for this syndrome, many complications associated with this syndrome can be treated, and a great deal can be done to support and compensate for functional disabilities. Due to the diversity of the symptoms, it may be necessary to see a number of different specialists and undergo various examinations, including the following:

• Ongoing routine pediatric care by a pediatrician or neurologist, psychiatrist and/or (for adults) specialist in the care of adults with intellectual disability
• Depending on the age of the affected individual, referral to an early childhood intervention program, ongoing special education programs, and/or vocational training
• Speech/language therapy, physical and occupational therapy, and sensory integration therapy
• Specialized neurologic and psychiatric care for individuals with extreme behavior problems and/or movement disorder. Behavioral therapies include special education techniques that may help minimize behavioral outbursts in the school setting by emphasizing individualized instruction, structure, and a set daily routine.
• Therapeutic management of the sleep disorder. No well-controlled treatment trials have been reported
• Specialized neurologic care for individuals with epilepsy; management of seizures in accordance with standard practice
• Standard treatment for cardiac, renal, urologic, and other medical issues
• Auditory amplification if hearing loss is identified
• Genetic Counseling – Although the majority of these cases are not inherited, when planning to expand the family, parents with affected children may have increased chances of having another child with this syndrome. Prenatal testing can be offered to the parents.