Laurence-Moon-Biedl

Autosomal recessive. Need 4 of the following 5 main features.

  1. retinitis pigmentosa, visual impairment (onset of visual impairment is in the teens and 20's)
  2. polydactyly (postaxial)
  3. obesity (90%)
  4. hypogonadism, hypogonadotropic (88%)
  5. mental handicap (may not always be present)

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