Preferred Label : Fazio-Londe syndrome;
ICD-11 definition : Fazio-Londe syndrome is an inherited disorder characterised by childhood onset of
bulbar, facial and respiratory weakness with limb hyperreflexia. Fazio-Londe syndrome
shares a similar clinical phenotype with Brown-Vialetto-Van Leare syndrome, except
there is no hearing loss. Fazio-Londe syndrome is recessively inherited, a result
of homozygous or compound heterozygous mutations in the SLC52A3 gene. Patients may
respond to therapy with riboflavin. NEW: Progressive bulbar paralysis of childhood
(Fazio-Londe syndrome) is characterized by progressive bilateral facial paralysis
with various other manifestations: ptosis, dysphagia, dysarythmia, dyspnea and frequent
respiratory infections. It may become generalized, leading to paralysis, amyotrophy
and abnormally sharp osteotendinous reflexes. The course is severe in cases of respiratory
insufficiency. It is caused by neuronal loss in the motor nuclei of the cranial nerves,
at the level of the spinal bulb. Degeneration of the anterior horn cells of the spinal
cord has also been reported. The mode of transmission is autosomal recessive.;
ICD-11 synonym : Progressive bulbar paralysis of childhood; Progressive bulbar palsy of childhood;
ICD-11 inclusion : Progressive bulbar paralysis of childhood;
Origin ID : 1500390195;
Automatic exact mappings (from CISMeF team)
Fazio-Londe syndrome is an inherited disorder characterised by childhood onset of
bulbar, facial and respiratory weakness with limb hyperreflexia. Fazio-Londe syndrome
shares a similar clinical phenotype with Brown-Vialetto-Van Leare syndrome, except
there is no hearing loss. Fazio-Londe syndrome is recessively inherited, a result
of homozygous or compound heterozygous mutations in the SLC52A3 gene. Patients may
respond to therapy with riboflavin. NEW: Progressive bulbar paralysis of childhood
(Fazio-Londe syndrome) is characterized by progressive bilateral facial paralysis
with various other manifestations: ptosis, dysphagia, dysarythmia, dyspnea and frequent
respiratory infections. It may become generalized, leading to paralysis, amyotrophy
and abnormally sharp osteotendinous reflexes. The course is severe in cases of respiratory
insufficiency. It is caused by neuronal loss in the motor nuclei of the cranial nerves,
at the level of the spinal bulb. Degeneration of the anterior horn cells of the spinal
cord has also been reported. The mode of transmission is autosomal recessive.
