postnatal microcephaly

Peroxisomol Fatty Acyl-CoA Reductase 1 Disorder

Clinical Characteristics
Ocular Features: 

At least some patients have cataracts which may be congenital in origin.  Highly arched eyebrows are part of the facial dysmorphism.

Systemic Features: 

Neonatal hypotonia is common while postnatal psychomotor development, somatic growth delay, microcephaly, and seizures become evident later.  The coarse facial dysmorphism includes large ears, a flattened nasal root, thin upper lip, a long philtrum, and a flattening of the nasal root.  Cognitive deficits are often present and some individuals have significant mobility problems. 

Red blood cell plasmalogen may be decreased.


This condition results from homozygous or compound heterozygous mutations in FAR1 gene (11p15.2) resulting in complete loss of enzyme activity consistent with a defect in peroxisomes.

There is some clinical resemblance to rhizomelic chondrodysplasia punctata (215100) in which congenital cataracts also occur but lacks the skeletal features and results from a different mutation. 

Autosomal recessive
Treatment Options: 

No treatment has been reported for the generalized condition but physical therapy and special education could be helpful.  Cataract removal is an option that may be considered.

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