Table 1.

Disease	MIM	Clinical Manifestations	Inheritance	Locus	Gene	Prevalence
Peutz-Jeghers Syndrome	175200	lentigines, GI polyps, neoplasia (GI tract, pancreas, breast, ovary, uterus)	AD	19p13.3	LKB1/STK11	2.2/100,000
Carney Complex	160980	lentigines, PPNAD cardiac and skin myxoma schwannomas, acromegaly, breast and testicular tumors	AD	17q22–24	PRKAR1A	>500cases described
Lentiginoses	151001 151000	lentigines (centrofacial palmoplantar, trunk), As above in addition to mental retardation	AD AD/sporadic	unknown unknown	unknown unknown	unknown
PTEN Hamartoma Tumor Syndrome (BRRS + Cowden Disease)	153480 158350	macrocephaly, lipomatosis, pigmentation of the glans penis, mental retardation, vascular malformations	AD	10q23.31	PTEN	>500 cases described
LEOPARD Syndrome	151100 611554	lentigines, cardiac conduction abnormalities, aneurysms, pulmonic stenosis, cephalo-facial dysmorphism, short stature, sensorineural deafness, mental retardation, skeletal abnormalities	AD AD	12q24.1 3p25	PTPN11 RAF1	200 cases described