Malouf syndrome

Malouf syndrome, also called congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome, is a rare congenital disorder. It can cause one or more of the following features: intellectual disability, ovarian dysgenesis, congestive cardiomyopathy, a broad nasal base, drooping of the upper eyelid (blepharoptosis) and bone abnormalities, and occasionally a marfanoid habitus with tall stature, long thin limbs, arachnodactyly, joint hyperextension, a narrow face, small chin, large testes and low muscle tone. It was first classified in 1985 by Dr. Joe Malouf, who described two sisters with hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis and a broad nasal base. Because their parents were first-degree cousins, he classified it as a familial disorder, and a 1992 case study by Narahara and colleagues of an 18-year-old woman reported similar findings. Its prevalence is unknown, with fewer than 20 affected families described in the literature. There is no specific cure, but symptoms can be treated, with options individualized by a doctor or specialist.