OMIM ID:
Neu-Laxova Syndrome 2
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
The eyes appear prominent, an effect that is sometimes exaggerated by absent or malformed eyelids.
Systemic Features
Intrauterine growth retardation is common and infants are born with significant deformities including microcephaly, limb malformations, flexion deformities, ichthyosis, and edema of the hands and feet. Brain malformations may be present as well.
Genetics
Inheritance
This disorder has a transmission pattern consistent with autosomal recessive inheritance. Homozygous or compound heterozygous mutations in the PSAT1 gene (9q21.2) are responsible.
This condition has similar features to Neu-Laxova syndrome 1 (256520) but is less severe and results from a different mutation.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.