Summary of survey results
| Limb abnormalities | |
|---|---|
| Polydactyly | |
| Postaxial polydactyly | 69% (75/109) |
| Four limb polydactyly | 21% (23/109) |
| Hands only | 8% (9/109) |
| Feet only | 21% (23/109) |
| Brachydactyly | 46% (51/109) |
| Syndactyly (usually 2 & 3) | 8% (9/109) |
| Obesity (central) | |
| Overweight | 72% (78/109) |
| Obese | 52% (56/109) |
| Eye anomalies | |
| Rod-cone dystrophy | 93% (102/109) |
| Other | (7% <8 years age) |
| Strabismus | |
| Astigmatism | |
| Cataracts | |
| Colour blindness | |
| Macular oedema & degeneration | |
| Optic atrophy | |
| Renal abnormalities (reported) | 24% (26/109) |
| Of those investigated (52%, 57/109) | 46% (26/57) anomaly detected |
| Chronic renal failure | 5% (6/109) |
| Tranplantation | 4% (4/109) |
| Anomalies reported | |
| Parenchymal cysts/communicating calyceal cysts | 10% (6/57) |
| Calyceal clubbing & blunting | 10% (6/57) |
| Fetal lobulation | 12% (7/57) |
| Scarring | 12% (7/57) |
| Unilateral agenesis | 4% (2/57) |
| Dysplastic kidneys | 5% (3/57) |
| Renal calculi | 2% (1/57) |
| Vesicoureteric reflux | 9% (5/57) |
| Neurological abnormalities | |
| Ataxia with poor coordination | 40% (43/109) |
| Gait abnormality | 33% (36/109) |
| Developmental delay | 50% (55/109) |
| Learning difficulties (usually mild to moderate) | 62% (68/109) |
| Behavioural problems | 33% (36/109) |
| Immaturity | |
| Frustration | |
| Disinhibition | |
| Obsessive/compulsive nature | |
| Gaze avoidance | |
| Lack of abstract thought | |
| Poor concentration/hyperactivity | |
| Schizophrenia present in 2% | |
| Speech deficit | 54% (59/109) |
| High pitched voice | |
| Hypernasal speech/poor articulation | |
| Palatal incoordination | |
| Consonant omissions/substitutions | |
| Poor language interpretation | |
| Hearing loss | |
| Conductive | 21% (23/109) |
| Mixed sensorineural/conductive | 3% (3/109) |
| Asthma | 25% (28/109) |
| Dental anomalies | 27% (29/109) |
| Crowding | |
| Malocclusion/micrognathia | |
| Enamel hypoplasia | |
| Discolouration | |
| High arched palate | 88% (40/45 examined) |
| Hypogenitalism in males | 89% (60/62) |
| Maldescent of testes | 13% (8/62) |
| Delayed puberty (all males) | 31% (19/62) |
| Congenital heart disease | 7% (8/109) |
| AS | 38% (3/8) |
| PDA | 38% (3/8) |
| Cardiomyopathy (type unspecified) | 25% (2/8) |
| Diabetes mellitus (NIDDM) | 6% (7/109) |