Clinical features frequently reported in 51 cases of Temple syndrome, subdivided by (epi)genotype
| All cases | UPD14mat | Epimutation | Paternal deletion | |||||
|---|---|---|---|---|---|---|---|---|
| Number (n) | 51 | 40 | 6 | 5 | ||||
| References (multiple patients in some reports) | 1 2 6 8–37 39–41 | 1 6 9–35 40 | 6 8 36 37 39 | 2 6 41 | ||||
| Male, female (n) | 23,28 | 18,22 | 4,2 | 1,4 | ||||
| % | n | % | n | % | n | % | n | |
| Growth | ||||||||
| IUGR | 75 | 27/36 | 79 | 23/29 | 50 | 2/4 | 67 | 2/3 |
| Premature birth | 30 | 12/40 | 40 | 12/30 | 0 | 0/6 | 0 | 0/4 |
| Birth weight <5th centile | 87 | 33/38 | 86 | 24/28 | 83 | 5/6 | 100 | 4/4 |
| Birth length <5th centile | 57 | 17/30 | 55 | 12/22 | 40 | 2/5 | 100 | 3/3 |
| Birth head circumference <5th centile | 27 | 7/26 | 28 | 5/18 | 0 | 0/5 | 67 | 2/3 |
| Postnatal short stature (<5th centile) | 79 | 38/48 | 81 | 30/37 | 50 | 3/6 | 100 | 5/5 |
| Small hands | 87 | 34/39 | 83 | 25/30 | 100 | 6/6 | 100 | 3/3 |
| Small feet | 96 | 26/27 | 95 | 19/20 | 100 | 6/6 | 100 | 1/1 |
| Obesity | 49 | 20/41 | 50 | 15/30 | 67 | 4/6 | 20 | 1/5 |
| Early-onset puberty | 86 | 19/22 | 87 | 13/15 | 100 | 4/4 | 67 | 2/3 |
| Neurological and musculoskeletal | ||||||||
| Hypotonia | 93 | 38/41 | 91 | 29/32 | 100 | 6/6 | 100 | 3/3 |
| Feeding problems | 22 | 16 | 5 | 1 | ||||
| Hyperextensible joints | 63 | 12/19 | 60 | 9/15 | 100 | 3/3 | 0 | 0/1 |
| Scoliosis | 23 | 7/30 | 26 | 6/23 | 33 | 1/3 | 0 | 0/4 |
| Motor developmental delay | 83 | 34/41 | 81 | 26/32 | 83.3 | 5/6 | 100 | 3/3 |
| Speech delay | 59 | 16/27 | 45 | 9/20 | 100 | 5/5 | 100 | 2/2 |
| Mental retardation | 39 | 13/33 | 42 | 11/26 | 33 | 1/3 | 25 | 1/4 |
| Fine motor/coordination problems | 6 | 3 | 2 | 1 | ||||
| Facial and other abnormalities | ||||||||
| Frontal bossing or prominent forehead | 17 | 11 | 2 | 4 | ||||
| Micrognathia | 12 | 7 | 3 | 2 | ||||
| High palate | 13 | 11 | 2 | |||||
| Short philtrum | 9 | 7 | 2 | |||||
| Almond-shaped eyes | 2 | 2 | ||||||
| Broad nose | 6 | 5 | 1 | |||||
| Depressed nasal bridge | 4 | 4 | ||||||
| Anteverted nares | 4 | 4 | ||||||
| Clinodactyly | 8 | 6 | 2 | |||||
| Miscellaneous | ||||||||
| Recurrent otitis media | 9 | 8 | 1 | |||||
| Hypercholesterolemia | 5 | 4 | 1 | |||||
| Maturity onset diabetes of the young/early onset diabetes | 3 | 2 | 1 | |||||
| Cryptoorchidism | 3 | 3 | ||||||
| Cleft palate/bifid uvula | 2 | 2 | ||||||
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.