Table 2 Modified diagnostic criteria for Bardet-Biedl Syndrome [9]
From: Prevalence of inherited retinal diseases in a large Egyptian cohort
Diagnosis is based on four primary criteria OR three primary plus two secondary criteria |
|---|
Primary Criteria |
Rod-cone dystrophy Polydactyly Obesity Learning disabilities Hypogonadism in males Renal anomalies |
Secondary Criteria |
Speech disorder/delay Strabismus/cataracts/astigmatism Brachydactyly/syndactyly Developmental delay Polyuria/polydipsia Ataxia/poor coordination/imbalance Mild spasticity (especially lower limbs) Diabetes mellitus Dental crowding/hypodontia/small roots/high arched palate Left ventricular hypertrophy/congenital heart disease Hepatic fibrosis |