Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Verloes et al. (1997) suggested the existence of an autosomal dominant coloboma-obesity-hypogenitalism-mental retardation syndrome. (See the Biemond syndrome II (210350) for an autosomal recessive form.) Cavallacci (1937) reported a mother with bilateral noncolobomatous microphthalmia, unilateral cataract, atypical retinitis pigmentosa, obesity, and borderline intelligence. She had 5 children, including 1 (early-deceased) with microphthalmia and a daughter with severe microphthalmia and cataract, obesity, hypogonadism, and mental retardation. Verloes et al. (1997) found several other reports, possibly of this same disorder, and added 3 sporadic cases: a boy who had microphthalmia noted at birth and hydrocephalus secondary to a large interhemispheric arachnoid cyst, requiring surgery. At age 7, he showed colobomatous microphthalmia with cataract on the left eye and microphthalmia with coloboma of the retina on the right. The second patient, seen at age 38, had extreme microphthalmia on one side and colobomatous microphthalmia on the other. Surgical treatment of bilateral cryptorchidism failed at age 10. Obesity appeared in infancy. After a failed suicide attempt at age 16, he was admitted to a psychiatric hospital where he spent the rest of his life. He showed obesity of the gynecoid type, with impressive bilateral gynecomastia and marked hypogenitalism. I.Q. was 60. The third patient, a girl seen at age 14.5 years, had right extreme microphthalmia and left microphthalmic coloboma noted at birth. Obesity began about age 5. Normal menarche occurred at 14 years of age. Verloes et al. (1997) reviewed other related disorders.