The association of anophthalmia or microphthalmia with distal limb deformities. Additional defects may include dysmorphic facies and mental deficiency. Many cases are lethal with spontaneous abortions. Cleft lip and cleft palate. Widely spaced nipples.
Dermatoglyphic findings consist of simian creases.
The syndrome is familial with parental consanguinity and is transmitted as an autosomal recessive trait.