The syndrome was originally thought to have five cardinal features (and recently a sixth was added), on the basis of which a diagnostic criterion was developed: 4 primary features or 3 primary features and 2 secondary features must be present. The primary features are: 1. Polydactyly 2. Rod-cone dystrophy 3. Learning disabilities 4. Obesity 5. Hypogonadism in males 6. Renal abnormalities While the secondary features are stated to be as: 1. Speech disorder and/or developmental delay 2. Ophthalmic abnormalities other than rod-cone dystrophy (strabismus, cataract, astigmatism etc) 3. Brachydactyly or Syndactyly 4. Polyuria and/or polydipsia (nephrogenic diabetes insipidus) 5. Ataxia, poor coordination, imbalance 6. Mild spasticity (especially lower limbs) 7. Diabetes mellitus 8. Dental crowding, hypodontia, small roots, high arched palate 9. Congenital heart disease 10. Hepatic fibrosis
Laurence–Moon syndrome
Coffin–Siris syndrome
Beckwith–Wiedemann syndrome
Maroteaux–Lamy syndrome
Griscelli syndrome type 2
GRACILE syndrome
Klüver–Bucy syndrome
Wiedemann–Steiner syndrome