Definition A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. [uniprot.org]

Kleefstra syndrome is a rare disorder characterized by moderate to severe intellectual disability, childhood hypotonia, developmental delay and extremely limited speech capabilities. [cags.org.ae]

People with Kleefstra syndrome usually have distinct facial features, developmental delay, intellectual disability, low muscle tone (hypotonia), and communication difficulties. [childrenshospital.org]

He attended special education classes and received speech, occupational, and physical therapy to address his developmental delays. He had recurrent acute otitis media managed with bilateral myringotomy. [hindawi.com]

Patients with KS2 predominantly have developmental delay and intellectual disability indicating the important function of this gene in brain’s normal development and function. [findaphd.com]

Patient 2, female aged 53 years, was known with childhood epilepsy and developed gradual decline of general functioning with motor slowing from her third decade. [cambridge.org]

Patients may require medication for sleep issues, behavioral problems and to treat epilepsy. [cags.org.ae]

Other physical abnormalities include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections and epilepsy/febrile seizures. [kidsiqproject.org]

Index Patient Short Stature 17 - Overweight (BMI>25) 42 + Developmental Delay/Intellectual Disability 100 + Heart defect 43 - Genital anomaly (in males) 43 + Renal anomaly 14 - Recurrent Infections 64 + Hearing deficit 24 + Gastro-esophageal reflux 14 - Epilepsy [hindawi.com]

Additional recurrent clinical features are short stature, microcephaly, childhood hypotonia, kyphosis/scoliosis and recurrent respiratory infections. [flybase.org]

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser. 1975;11: 7–18. [reseau-maladies-rares.fr]

Clinical Features in 21 patients Index Patient Short Stature 17 - Overweight (BMI>25) 42 + Developmental Delay/Intellectual Disability 100 + Heart defect 43 - Genital anomaly (in males) 43 + Renal anomaly 14 - Recurrent Infections 64 + Hearing deficit [hindawi.com]

Additional recurrent clinical features are short stature, microcephaly, childhood hypotonia, kyphosis/scoliosis and recurrent respiratory infections. [flybase.org]

In the diagram of the long arm of chromosome 9 (below) you can see the bands are numbered outwards starting from the point at the top of the diagram where the short and long arms meet (the centromere). [kleefstrasyndrome.org]

Individuals with Kleefstra syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 9. [medlineplus.gov]

Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). [medlineplus.gov]

Less Common Features Slightly unusual hands and/or feet (single palm crease, incurving fingers, short or tapering fingers, unusually positioned feet) Hearing impairment Strabismus (squint) or other unusual eye features Kidney anomalies Connective tissue [kleefstrasyndrome.org]

Examination was remarkable for facial dysmorphisms (prominent eyebrows, low set ears, midfacial retrusion, and mild prognathism) (see Figure 1) and a genital exam that showed a micropenis. [hindawi.com]

Patients often suffer from distinctive facial dysmorphia, such as brachycephaly, microcephaly, flat face, mid face hypoplasia, hypertelorism, synophrys, a full everted lower lip, a protruding tongue and prognathism. [cags.org.ae]

[…] neurological and physical abnormalities, a patient may have childhood hypotonia (low muscle tone which is often associated with reduced muscle strength, and therefore, reduced basic gross motor skills such as walking), distinctive facial features (including mid-face [kidsiqproject.org]

Patients often suffer from distinctive facial dysmorphia, such as brachycephaly, microcephaly, flat face, mid face hypoplasia, hypertelorism, synophrys, a full everted lower lip, a protruding tongue and prognathism. [cags.org.ae]

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 [medlineplus.gov]

Typical phenotypes highly associated with the syndrome include heart defects, seizures, obesity, eye abnormalities, behavioral problems, and genital abnormalities. Penetrance is likely 100% with variable expressivity. [hindawi.com]

In her thirties, a mood/anxiety disorder was suspected for which several antidepressants were given without any effect. Array analysis was normal. [cambridge.org]

Definition A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. [uniprot.org]

Aged 24, he suffered from some epileptic seizures. Recently, paroxysmal atrial fibrillation was diagnosed. Neither treatment with pipamperone and risperidone nor with valproate was effective for behavioral control. [cambridge.org]

Your doctor may prescribe medications to treat seizures or sleep problems. Hearing loss may be treated with hearing aids or cochlear implants. Your doctor may also recommend orthopedic treatments later in life. [childrenshospital.org]

There was no history of hypotonia, feeding difficulties, or seizures. Karyotype showed normal male (46, XY). Fragile X testing was normal. [hindawi.com]

Other physical abnormalities include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections and epilepsy/febrile seizures. [kidsiqproject.org]

In both patients marked apathy was observed (AES = 62 and 64, respectively). Conclusions Apathy syndrome in Kleefstra syndrome should be differentiated from depression and autism. [cambridge.org]

Behavioural abnormalities may include extreme apathy or catatonic-like features during or after puberty and autistic-like features in childhood (KS patients are often dual diagnosed with Autism Spectrum Disorder). [kidsiqproject.org]

Learning Disability Severely delayed or absent speech Recognisable facial appearance Low muscle tone (hypotonia) – delayed physical milestone Common Features Heart conditions Structural brain abnormalities/Seizures General loss of interest and enthusiasm (apathy [kleefstrasyndrome.org]

In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia). Frequency The prevalence of Kleefstra syndrome is unknown. [medlineplus.gov]

Sleep disturbance as a precursor of severe regression in Kleefstra syndrome suggests a need for firm and rapid pharmacological treatment. Clin Neuropharmacol. 2017b;40:185–8. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

Parents deny any new behavioral changes, sleep disturbances, or seizures. He continues to follow up in the endocrine clinic for monitoring of pubertal progression and growth velocity. 3. [hindawi.com]

He X, Caluseriu O, Srivastava R, Denny AM, Bolduc FV: Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome. Neurol Genet 2:e58 (2016). [karger.com]