Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries.^[2] It has been described in eight individuals of which seven came from Finnmark County, Norway.^[3][4][5] Inheritance pattern is thought to be autosomal recessive.^[6]

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Other names	Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract, Bassoe syndrome[1]
Specialty	Medical genetics
Symptoms	muscular, gonadal, and ocular anomalies
Complications	Infertility, vision loss
Usual onset	Birth (muscular dystrophy), Infancy (cataracts), Birth/Puberty (hypogonadism), Birth (ovarian agenesis and klinefelter syndrome)
Duration	Lifelong
Causes	Genetic mutation
Prevention	None
Prognosis	Good
Frequency	very rare, only eight cases have been reported in medical literature
Deaths	-