Summary

Anophthalmia with anomalies of hands and feet is a distinct syndrome which inheritance is most likely to be autosomal, recessive. A total of 18 families have been reported, male/female ratio was 1:3 and consanguinity was noted in 90% of the families. The most common clinical abnormalities were anophthalmia and foot malformations, which occurred in 90% of patients. Eyelids, eyebrows, eyelashes, and orbits were normal except for some shortness of the palpebral fissures and smallness of the bony orbits. The most common and distinctive foot abnormality was the presence of only four toes bilaterally. A wide gap between the 1st and 2nd toes has also been noted in most cases. Joint laxity, club foot, valgus deformity, hypoplastic fibula, bowed tibia, and hip dislocation were observed in some cases in addition to the other findings. Both hands were affected in 75% of the cases. Basal synostosis of the 4th and 5th metacarpals was the most distinctive abnormality. Camptodactyly affecting the 2nd through 5th fingers was noted in several cases. Postnatal growth delay was noted in half of the patients. Severe mental retardation was also present in half of reported cases.

Expert reviewer(s)

• Dr Mustafa TEKIN