Kleefstra syndrome

Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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PMID (PMCID)
30370152
(6189678)
 OTHER
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association.
Torga AP, Hodax J, Mori M, Schwab J, Quintos JB.
Case Rep Endocrinol. 2018;2018:4283267.
Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood hypotonia, and facial dysmorphisms.
26918030
(4766673)
 OTHER
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.
Hadzsiev K, Komlosi K, Czako M, Duga B, Szalai R, Szabo A, Postyeni E, Szabo T, Kosztolanyi G, Melegh B.
Mol Cytogenet. 2016;9:22.
Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia.
26030700
 FEMALE Young Adult
Deep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome.
Segar DJ, Chodakiewitz YG, Torabi R, Cosgrove GR.
Neurosurg Focus. 2015;38(6):E12.
In this report, the authors present the first case in which DBS was used to treat the neuropsychiatric symptoms of Kleefstra syndrome, a rare genetic disorder characterized by childhood hypotonia, intellectual disability, distinctive facial features, and myriad psychiatric and behavioral disturbances.
25380126
 FEMALE Infant, Newborn
Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Campbell CL, Collins RT 2nd, Zarate YA.
Birth Defects Res A Clin Mol Teratol. 2014;100(12):985-90.
Patients with Kleefstra syndrome have multisystem involvement including intellectual disability, hypotonia, and characteristic facial features.