Table 1

Clinical features frequently reported in 51 cases of Temple syndrome, subdivided by (epi)genotype

All casesUPD14matEpimutationPaternal deletion
Number (n)514065
References (multiple patients in some reports)1 2 6 8–37 39–411 6 9–35 406 8 36 37 392 6 41
Male, female (n)23,2818,224,21,4
 Premature birth3012/404012/3000/600/4
 Birth weight <5th centile8733/388624/28835/61004/4
 Birth length <5th centile5717/305512/22402/51003/3
 Birth head circumference <5th centile277/26285/1800/5672/3
 Postnatal short stature (<5th centile)7938/488130/37503/61005/5
 Small hands8734/398325/301006/61003/3
 Small feet9626/279519/201006/61001/1
 Early-onset puberty8619/228713/151004/4672/3
Neurological and musculoskeletal
 Feeding problems221651
 Hyperextensible joints6312/19609/151003/300/1
 Motor developmental delay8334/418126/3283.35/61003/3
 Speech delay5916/27459/201005/51002/2
 Mental retardation3913/334211/26331/3251/4
 Fine motor/coordination problems6321
Facial and other abnormalities
 Frontal bossing or prominent forehead171124
 High palate13112
 Short philtrum972
 Almond-shaped eyes22
 Broad nose651
 Depressed nasal bridge44
 Anteverted nares44
 Recurrent otitis media981
 Maturity onset diabetes of the young/early onset diabetes321
 Cleft palate/bifid uvula22
  • Terms are used as documented in the texts of reports. Not all of the clinical features were reported in all cases, and therefore the percentages documented in this paper are based on cases where the feature could be definitely assessed as either being present or absent.

  • IUGR, intrauterine growth retardation; UPD14mat, maternal uniparental disomy of chromosome 14.