Features | Patients | Unaffected relatives | Concordance in patients investigated | ||||||||||||||
501 | 502 | 503 | 505 | 507 | 508 | 509 | 511 | 401 | 402 | 403 | 404 | 504 | 506 | 510 | 512 | ||
Sex | F | M | M | F | F | F | M | F | F | M | M | F | F | F | M | F | |
Age (years) | 28 | 25 | 25 | 22 | 16 | 25 | 24 | 18 | 52 | 61 | 50 | 44 | 22 | 18 | 20 | 16 | |
Clinical findings | |||||||||||||||||
Primary features | |||||||||||||||||
Rod-cone dystrophy | – | N/A | +, retinitis pigmentosa early features | +, optic nerve atrophy | N/A | + | +, early features | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 4/7 |
Polydactyly in hands/feet | B/A | –/A | A/A | B/A | B/– | B/– | A/MA | –/A | – | – | – | – | – | – | – | – | 6/8, 6/8 |
Obesity (BMI)† | Overweight (25.6) | Over weight (26.3) | – (20.0) | Over weight (27.0) | – (23.0; 74th centile) | ++ (37.5) | ++ (36.3) | + (33.6) | – (20.6) | + (30.4) | – (23.5) | − (23.5) | Over weight (28.8) | Over weight (25.5) | – (22.5) | – (24.5; 85th centile) | 3/8 |
Intellectual disability | – | – | ++ | ++ | – | + | + | – | – | – | – | – | – | – | – | – | 4/8 |
Renal anomaly | – | N/A | Parenchymal disease | – | N/A | Parenchymal disease | – | N/A | N/A | N/A | – | N/A | N/A | N/A | N/A | N/A | 2/5 |
Urogenital abnormality | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
Secondary features | |||||||||||||||||
Enlarged fatty liver | – | N/A | – | + | N/A | + | + | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 3/5 |
Physical disability; neuromotor problem | – | – | ++, # | – | – | – | – | – | – | – | – | – | – | – | – | – | 1/8 |
Speech disorder | – | – | + | + | – | – | – | – | – | – | – | – | – | – | – | – | 2/8 |
Aggressive behaviour | – | – | – | – | – | – | + | – | – | – | – | – | – | – | – | – | 1/8 |
Dental anomalies | – | – | + | + | – | – | + | – | – | – | – | – | – | – | – | – | 3/8 |
Developmental delay | – | – | ++ | ++ | – | – | + | – | – | – | – | – | – | – | – | – | 3/8 |
Diabetes | – | N/A | – | N/A | N/A | + | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1/3 |
Ataxia/poor coordination | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | 0/8 |
Syndactyly/brachydactyly | –/– | –/– | –/– | –/– | –/– | –/– | 2/3 toes syndactyly, right/– | –/– | –/– | –/– | –/– | –/– | –/– | –/– | –/– | –/– | 1/8, 0/9 |
Others | |||||||||||||||||
Exotropia of right eye | + | N/A | – | + | N/A | – | + | N/A | – | – | – | – | – | – | – | – | 3/7 |
Shortness of breath | + | – | + | + | + | + | + | N/A | – | – | – | – | – | – | – | – | 6/7 |
Diverse | Retroverted uterus | – | Sparse hair; enuresis; enlarged head; frontal bossing | – | – | – | Overriding sixth toe, left; hyperphagy; insomnia; low hairline, hypertensive | – | Goitre | – | – | – | – | – | – | – | – |
*Age at the time of last examination.
†For ages 20 years and over, normal BMI is 18.5–24.9, overweight 25–30, obese >30 and morbidly obese >40. BMI for ages below 20 was calculated using https://nccd.cdc.gov/dnpabmi/Calculator.aspx?CalculatorType=Metric as recommended by http://www.who.int/growthref/who2007_bmi_for_age/en/.
#, walks with support; +, feature present; ++, severe phenotype; –, feature absent; A, bilateral postaxial type A; B, bilateral postaxial type B; bilateral MA, mesoaxial; BMI, body mass index; F, female; M, male; N/A, phenotype not ascertained.