This is a rare heritable disease that is lethal, usually in the neonatal period, due primarily to severe brain malformations.
Growth in the uterus is slow and the head is disproportionately small (microcephaly). Limb joints are often contracted (unable to straighten out the arms and legs). The skin is rough and scaly but also somewhat puffy from edema. The brain may be severely deformed. The eyes appear prominent, especially if the eyelids are malformed.
This is an autosomal recessive disorder which requires a mutation in both copies of a gene to be expressed. Parents with only one mutation are known as carriers and are clinically normal. However, they can expect that each of their children have a 25% risk of inheriting this condition.
The diagnosis is likely to be considered at birth based on the skin, skull, and facial features. Neurologists and pediatricians will collaborate on the evaluation. No treatment is available and most Infants usually do not live beyond the neonatal period.