Coffin Lowry Syndrome

General Medical Guideline
Last modified
3 August 2019

Care management for individuals with Coffin-Lowry syndrome is symptomatic, supportive and based is  what is known of Coffin-Lowry syndrome.

Individuals with CLS should be monitored for progressive kyphoscoliosis (reported to occur in 80% of patients) and pectus carinatum/excavatum (in 80% of patients), and progressive kyphosis/scoliosis, which can become life-threatening if the cardiorespiratory system becomes compromised.

A sensorineural hearing defect is reported in 30% of the individuals. 

A cardiac evaluation, with attention to mitral valve dysfunction and cardiomyopathy, is recommended.

10 % suffer from a sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. The events are usually not associated with impairment of consciousness.

Anti-epileptic medications, such as clonazepam, may be used to treat drop attacks, although little is known about the effect of such a treatment. Some persons with CLS suffer from epilepsy.

Reference:

Coffin Lowry Syndrome, 2010

The natural history of spinal deformity in patients with Coffin-Lowry syndrome, 2018

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome, 2015

Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin–Lowry syndrome, 2014

Rare Condition

Coffin Lowry Syndrome

Coffin Lowry syndrome is a rare genetic disorder characterized by

  • mental retardation;
  • abnormalities of the head and facial (craniofacial) area;
  • large, soft hands with short...
Diseases