Blepharophimosis, blepharoptosis, and sparse eyebrows. Microstomia, thin vermilion border, and hypoplastic teeth. Dermatoglyphic findings show finger pattern consisting of six whorls and four ulnar loops in the first case and four whorls, four ulnar loops, one radial loop, and one arch in the second case. Cryptorchidism and scrotal hypoplasia. Transmitted as an autosomal recessive trait.
Some cases are familial but many have been reported in unrelated patients.