Table 1

Dysmorphic and monogenic syndromes associated with obesity

Main clinical obesity-associated syndromes
  Prader-Willi syndrome
  Trisomy 21
 Autosomal dominant
  Biemond syndrome (some cases)
 Autosomal recessive
  Aistrom syndrome
  Bardet-Biedl syndrome
  Biemond syndrome (some cases)
  Carpenter syndrome
  Cohen syndrome
 X-linked inheritance
  Borjeson-Forssman-Lehmann syndrome
 Single gene lesions affecting leptin metabolism
  Congenital leptin deficiency
   Truncated leptin protein
   Missense mutation in leptin
  Leptin receptor mutation
  Prohormone convertase 1 mutation
  Melanocortin 4 receptor mutation
Clinical features suggesting obesity may be secondary to another condition or syndrome
Severe unremitting obesity
Abnormal facies
Disorders of the eyes
 Colobomata (eg, Beimond type 2 syndrome; Coloboma-mental retardation, hypogonadism and obesity)
 Retinal problems, especially retinitis pigmentosa
 Narrow pelpebral fissures
 Abnormally position palpebral fissures
 Severe squint (eg, Prader-Willi)
Skeletal abnormalities
Sensorineural deafness (eg, Alstrom syndrome: sensorineural deafness, diabetes mellitus, retinal dystrophy, obesity)
Microcephaly and/or abnormally shaped skull
Mental retardation
 Delayed puberty
Renal abnormalities
Cardiac abnormalities