Craniosynostosis caused by genetic factors includes a heterogeneous group of 
over 100 syndromes, most with autosomal dominant inheritance. Mutations in five 
genes (FGFR1-, -2, -3, TWIST, and MSX2) causing craniosynostosis as the main 
clinical feature were described. In most of these conditions, there are also 
limb malformations. We report a two-generation kindred segregating microcornea, 
optic nerve alterations and cataract since childhood, craniosynostosis, and 
distal limb alterations, with a great clinical intrafamilial variability. The 
ophthalmological problems here described seem to be unique to this genealogy 
while similar feet alterations were apparently only described in two other 
affected siblings with acro-cranial-facial dysostosis syndrome (ADS). However, 
ADS has an autosomal recessive inheritance instead of the dominant pattern of 
the present genealogy. The candidate exons of the five genes previously 
mentioned were tested through sequencing analysis presenting normal results in 
all cases. Therefore, clinical and laboratory analyses in our patients suggest 
that their phenotype represents a new syndrome very likely caused by mutation in 
a gene different from those studied.