This is a severe inherited condition with extensive malformations and a usually short lifespan. The primary manifestations are developmental delay and kidney disease.
Infants have a low birth weight due to intrauterine growth retardation. The skull and midface are underdeveloped, the forehead is sloping, and the back of the head may be flat. The eyes likewise are small and often have opacities in the cornea (the clear part of the eye) and cataracts can be present together with a pale optic nerve. The level of vision is unknown. The ears are often large, floppy, and low-set. The jaw is underdeveloped (micrognathia). Infants who live beyond the newborn period usually develop severe kidney disease which may be fatal by one year of age. Many have a defect in the stomach wall (hiatal hernia).
Numerous brain abnormalities have been described and the degree of intellectual disability is usually severe. Many newborns have poor muscle tone but this may develop into spasticity later. Often kidney function becomes compromised in the first year of life with loss of protein through the urine severe enough to measure a deficiency of blood proteins. Some infants have seizures.
Mutations in a gene are responsible for this condition. Both copies of the gene must be mutated while carrier parents, who are clinically normal, carry only one copy. Both parents must contribute their copy of the mutation to a child in order for the condition to be expressed. This on average happens in 1 out of 4 of their children, so there is a 25% risk to each child. This is known as an autosomal recessive transmission pattern.
Most clinical features of this syndrome are evident at birth and can suggest the diagnosis to pediatricians and geneticists. The ocular features are not distinctive but their presence can aid in the confirmation of the diagnosis.
No treatment is available for the kidney and brain disease. Infants may not live beyond the first several years of life although some live into the second or third decades.