Laurence-Moon-Biedl
Autosomal recessive. Need 4 of the following 5 main features.
- retinitis pigmentosa, visual impairment (onset of visual impairment is in
the teens and 20's)
- polydactyly (postaxial)
- obesity (90%)
- hypogonadism, hypogonadotropic (88%)
- mental handicap (may not always be present)
- Also see renal problems in 90% (calyceal clubbing, cysts or diverticulae,
fetal lobulations, renal cortical loss, reduced ability to concentrate urine -
renal failure can occur). The picture can be that of juvenile nephronopthisis.
- Menstrual problems in 100% of females.
Associated with
Puberty, delayed.
- Diabetes mellitus occurs in 50%
Mnemonic: Moonfaced (obesity) beetle (a lot of legs, polydactyly) scratching
at its eyes (retinitis pigmentosa, visual impairment) because it's depressed
about its lack of balls (hypogonadism, excuse the impropriety).
CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes