Medical ConditionsBehavior & neurodevelopment: Kleefstra syndrome
Medical ConditionsBehavior & neurodevelopment: Kleefstra syndrome
Kleefstra syndrome
Overview
Board takeaway: Assess swallowing, seizures, sleep, and cardiac or respiratory disease; use the child’s receptive abilities and communication supports.
What causes Kleefstra syndrome?
Loss of EHMT1 function through a pathogenic variant or a 9q34.3 deletion causes an autosomal dominant disorder, usually de novo. EHMT1 participates in chromatin regulation. Developmental disability, hypotonia, and severely limited expressive speech are central findings.
Which systemic and craniofacial findings occur in Kleefstra syndrome?
Seizures, sleep or behavioral problems, hearing or visual impairment, cardiac or renal anomalies, obesity, reflux, and recurrent respiratory problems may occur. Some patients lose skills or develop substantial psychiatric changes later. Facial features may include microcephaly or brachycephaly, midface hypoplasia, joined eyebrows, mandibular prominence, everted lips, and a large tongue.
What oral findings are reported in Kleefstra syndrome?
Macroglossia, protruding tongue, mandibular prognathism, unusual eruption, or retained primary teeth are reported. Caries risk depends on feeding, medications, hygiene access, and caregiver support. Hypotonia and swallowing impairment can affect clearance and aspiration risk.
How should dental care be adapted for Kleefstra syndrome?
Use supported communication and familiar routines; assess understanding and pain directly. Review seizures and rescue medications, sleep-disordered breathing, dysphagia, respiratory infections, and relevant organ disease. Provide effective suction and comfortable positioning. Anesthesia or advanced behavior guidance follows individual risk and treatment needs; complex airway or cardiopulmonary disease may require hospital resources. Antibiotic prophylaxis depends on a qualifying lesion or individualized immune indication.
What treatment and prognosis apply to Kleefstra syndrome?
Multidisciplinary support addresses communication, development, feeding, sleep, behavior, and organ complications. Support needs can change over time. Prognosis varies with cardiac and respiratory disease and neurologic course; there is no single established lifespan for all patients.