Malouf syndrome
Appearance
Malouf syndrome | |
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Other names | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).[2]
This disease is named after J. Malouf, who performed a case study on a family suffering from this disease in 1985.
References
- ^ McKusick, Victor A. (1998). Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. JHU Press. p. 2066. ISBN 9780801857423.
- ^ "Dilated cardiomyopathy with hypergonadotropic hypogonadism | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov.
External links