There is no set criteria used to diagnose<unk> . Signs and symptoms such as congestive or dilated cardiomyopathy, ovarian dysgenesis in females or primary testicular failure in males, mental retardation, broad nasal base, blepharoptosis, skin lesions, and skeletal abnormalities are used as a reference to diagnosis this rare disease, and genetic testing of the LMNA gene can serve as a way to confirm any diagnosis made.<unk>  was first diagnosed in 1985 by Dr. Joe<unk> . Dr.<unk>  examined two sisters who exhibited congestive cardiomyopathy associated with ovarian dysgenesis, secondary hypergonadotropic hypogonadism, bilateral ptosis, and prominent nasal bones. Dr.<unk>  noted that this disease may be familial as the two sisters were children of first degree cousins. In 1992, Kouji Narahara examined an 18-year-old girl who displayed the same symptoms seen by Dr.<unk> . Diagnosis of this syndrome is sometimes conflicting as the symptoms displayed match that of other diseases such as limb girdle muscular dystrophy, Hutchinson-Gilford progeria syndrome etc.
Malouf syndrome
Wilson–Turner syndrome
Hanhart syndrome
Omenn syndrome
Kapur–Toriello syndrome
Hunter syndrome
Coffin–Siris syndrome
Turner syndrome