Waardenburg Anophthalmia Syndrome (WAS) is a rare developmental disorder associated with anophthalmia (absence of the eye) or microphthalmia, and various limb malformations. Consanguinity was noted in 90% of the families reported with WAS. The most common and distinctive foot abnormality is the presence of only four toes bilaterally. Most studied cases showed a wide gap between the 1st and 2nd toes. Joint laxity, club foot, valgus deformity, hypoplastic fibula, bowed tibia, and hip dislocation were observed in some cases. About 75% of the cases had abnormalities in both hands with the most distinctive abnormality of basal synostosis of the fourth and fifth metacarpals. Also, camptodactyly affecting the second through fifth fingers was noted in several cases. About 50% of the patients showed postnatal growth delay. Severe mental retardation was also present in 50% of the reported cases.
Mutations in SMOC1 gene is associated with Waardenburg Anophthalmia Syndrome.
Megarbane et al. (1998) studied a 12-day-old boy who presented ophthalmo-acromelic syndrome (OAS). He was the first child of healthy consanguineous Lebanese parents. Ultrasound was performed at 21 weeks of gestation showing an oligoamnios. The child displayed bilateral anophthalmos (no eyeballs), adherent eyelids, deeply set small orbits, anteverted nares, micrognathia, very short neck, and narrow chest. X-ray of the upper and lower limbs showed a syndactyly between the second and the third fingers with metacarpal polydactyly on the right hand, an oligodactyly with the presence of only three fingers on the left hand, and a rudimentary toe on the right foot. The subarachnoid spaces were moderately enlarged. The variable phenotypes of the limb and eye malformations were thought to be caused by mutations at single locus.
Al-Gazali et al. (1994) reported a male child of Syrian origin, resident of the United Arab Emirates, born to consanguineous parents, who presented with ophthalmoacromelic syndrome. The child was born as the result of a twin pregnancy. His co-twin, however, was normal. At birth, he was found to have an asymmetric head with frontal bossing, down-slanting palpebral fissures, flat malar areas, short fifth fingers with lateral deviation, missing fifth toes, and a wide space between the first and the big toe. Radiological analysis showed that the fourth and fifth metacarpals were fused bilaterally, while the bones of the fifth toes were absent. The right eye was comparatively smaller, with an irregular pupil and a white reflex in the papillary area. A detailed examination of this eye showed features consistent with a diagnosis of hyperplastic primary vitreous, including a shallow anterior chamber, neovascularization of the iris and a non attached retina. CT right orbit showed clouding of the vitreous and thickening at the sclero-retinal junction. At 8-months of age, the patient was found to have no sight in his right eye, as well as a slight delay in motor development.
[See: Syria > Al-Gazali et al., 1994].