Table 2

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 syndromeRussell–Silver syndrome
(%, n)ICR1 hypomethylation (%)UPD7mat (%)
 Small for gestational age*87 (33/38)8270
 Short stature*79 (38/48)5765
 Relative macrocephaly56 (38/68)7090
 Asymmetry4 (2/51)6830
 Mental retardation39 (13/33)2065
 Motor delay83 (34/41)267
 Speech delay or speech therapy59 (16/27)32–3950–67
Other problems
 Feeding difficulties43 (22/51)8490
 Hypoglycaemia4 (2/51)2429
 Excessive sweating6475
 Congenital abnormalities†16 (8/51)3610
 Early onset puberty86 (19/22)
Craniofacial features
 Frontal bossing or prominent forehead33 (17/51)6060
 Micro/retrognathia24 (12/51)6435
 Ear abnormalities20 (10/51)3675
Other clinical signs
 5th finger clinodactyly16 (8/51)7545
 Joint contractures8 (4/51)110
  • 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.