Pontocerebellar hypoplasia type 13

What it is

A form of pontocerebellar hypoplasia characterized by infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Neonatal

Inheritance

Autosomal recessive

Classified as

Clinical subtype

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references