Dysmorphic and monogenic syndromes associated with obesity
| Main clinical obesity-associated syndromes |
| Chromosomal |
| 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 |
| Polydactyly |
| Syndactyly |
| Kyphoscoliosis |
| Sensorineural deafness (eg, Alstrom syndrome: sensorineural deafness, diabetes mellitus, retinal dystrophy, obesity) |
| Microcephaly and/or abnormally shaped skull |
| Mental retardation |
| Hypotonia |
| Hypogonadism |
| Cryptorchidism |
| Micropenis |
| Delayed puberty |
| Renal abnormalities |
| Cardiac abnormalities |