Coffin-Lowry syndrome
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A teenage boy has severe intellectual disability, coarse facial features with a prominent forehead and widely spaced eyes, and large soft hands with tapered fingers.
XLD; RPS6KA3 gene
- Intellectual disability (severe in males, variable in females)
- Coarse facies, prominent forehead, hypertelorism
- Large, soft hands with tapered fingers
- Skeletal abnormalities, progressive kyphoscoliosis
- Stimulus-induced drop attacks (some patients)
- Clinical recognition: characteristic coarse facies, large soft hands with tapered fingers, and intellectual disability (severe in males)
- Confirm with molecular testing of RPS6KA3 (sequencing plus deletion/duplication analysis); females show variable expression
- Skeletal survey for vertebral and hand changes (drumstick terminal phalanges); echocardiogram for valvular disease
- Multidisciplinary developmental, educational, speech, and physical/occupational therapy
- Orthopedic monitoring for progressive kyphoscoliosis; cardiology surveillance for mitral valve disease and arrhythmia
- For stimulus-induced drop attacks, protective measures (wheelchair/helmet) and trial of medications (e.g., clonazepam or selective serotonin reuptake inhibitors); periodic hearing screening
"There's a coRPSe in the Coffin": The gene is RPS6KA3 (Ribosomal Protein S6 Kinase A3).
"Seeing a Coffin will make you fall Low": Stimulus-induced drop attacks (SIDAs), brief collapse after unexpected stimulus. "CoLlapse in Coffin-Lowry."