Clinical features of Temple syndrome obtained from literature review, expressed as percentages (bold denotes result where positive and negative findings available, otherwise percentages calculated from positive results compared with whole cohort)
| Temple syndrome | Russell–Silver syndrome | ||
|---|---|---|---|
| (%, n) | ICR1 hypomethylation (%) | UPD7mat (%) | |
| Growth | |||
| Small for gestational age* | 87 (33/38) | 82 | 70 |
| Short stature* | 79 (38/48) | 57 | 65 |
| Relative macrocephaly | 56 (38/68) | 70 | 90 |
| Asymmetry | 4 (2/51) | 68 | 30 |
| Development | |||
| Mental retardation | 39 (13/33) | 20 | 65 |
| Motor delay | 83 (34/41) | 26 | 7 |
| Speech delay or speech therapy | 59 (16/27) | 32–39 | 50–67 |
| Other problems | |||
| Feeding difficulties | 43 (22/51) | 84 | 90 |
| Hypoglycaemia | 4 (2/51) | 24 | 29 |
| Excessive sweating | 64 | 75 | |
| Congenital abnormalities† | 16 (8/51) | 36 | 10 |
| Early onset puberty | 86 (19/22) | ||
| Craniofacial features | |||
| Frontal bossing or prominent forehead | 33 (17/51) | 60 | 60 |
| Micro/retrognathia | 24 (12/51) | 64 | 35 |
| Ear abnormalities | 20 (10/51) | 36 | 75 |
| Other clinical signs | |||
| 5th finger clinodactyly | 16 (8/51) | 75 | 45 |
| Joint contractures | 8 (4/51) | 11 | 0 |
Clinical features of Russell–Silver syndrome as reported by Wakeling et al.45
*<5th centile in Temple syndrome; ≤−2 SDS in Russell–Silver syndrome.
†Included reports of one bifid uvula, one cleft palate, one anteriorly placed anus, one ventriculoseptal defect, one absent sphenoid bone, one case of cutis aplasia, one patient with neck webbing and one case of hypoplastic nails.
ICR, imprinting control region; SDS, standard deviation score; UPD7mat, maternal uniparental disomy of chromosome 7.