Table 1

The prevalence of craniofacial and functional anomalies in TGF-β-opathies

Craniofacial anomaliesLDS1
(TGFBR1)
LDS2
(TGFBR2)
LDS3
(SMAD3)
LDS4
(TGFB2
ligand)
LDS5
(TGFB3
ligand)
SGS
(SKI)
Total
n=15%n=14%n=3%n=7%n=1%n=4%n=44%
Face
1Facial asymmetry13.35.035.70.00.01.014.30.00.00.00.08.018.2
2Craniosynostosis2.013.34.028.60.00.00.00.00.00.04.0100.010.022.7
3Broad forehead7.046.710.071.40.00.04.057.10.00.03.075.024.054.5
4Flat midface projection/infraorbital flatness13.086.714.0100.02.066.73.042.91.0100.04.0100.037.084.1
5Mandibular hypoplasia/retrognathic mandible14.093.313.092.92.066.74.057.10.00.04.0100.037.084.1
6Cleft palate/bifid uvula6.040.010.071.40.00.00.00.00.00.01.025.017.038.6
Eyes
7Abnormal eye shape/downslanting palpebral fissures11.073.310.071.41.033.36.085.70.00.04.0100.032.072.7
8Hypertelorism5.033.37.050.00.00.02.028.60.00.04.0100.018.040.9
9Telecanthus1.06.76.042.90.00.01.014.30.00.04.0100.012.027.3
10Vertical dystopia5.033.37.050.00.00.03.042.91.0100.03.075.019.043.2
11Exopthalmos3.020.06.042.90.00.01.014.30.00.04.0100.014.031.8
12Blue sclera6.040.04.028.61.033.31.014.30.00.03.075.015.034.1
13Scleral show10.066.78.057.11.033.33.042.91.0100.04.0100.027.061.4
14Blepharoptosis11.073.39.064.32.066.74.057.10.00.03.075.029.065.9
Nose
15Slit nares/bulbous tip10.066.78.057.13.0100.05.071.40.00.03.075.029.065.9
Lips
16Abnormal lip shape (thin upper lip vermillion, indistinct philtrum)9.060.09.064.32.066.74.057.10.00.04.0100.028.063.6
Ears
17Low-set ears11.073.310.071.43.0100.04.057.10.00.04.0100.032.072.7
18Abnormal ear size4.026.73.021.40.00.01.014.30.00.03.075.011.025.0
Skin
19Skin translucency/nasal dorsal vein9.060.08.057.12.066.73.042.90.00.04.0100.026.059.1
Functional anomalies
20Hearing deficiency6.040.02.014.30.00.00.00.00.00.00.00.08.018.2
21TMD7.046.76.042.91.033.31.014.31.0100.01.025.017.038.6
Limited ROM0.00.01.07.10.00.00.00.00.00.00.00.01.02.3
Deviation2.013.30.00.00.00.00.00.00.00.01.025.03.06.8
Sounds5.033.35.035.71.033.31.014.31.0100.01.025.014.031.8
Arthralgia/patient-reported pain4.026.72.014.31.033.31.014.31.0100.01.025.010.022.7
22OSA4.026.72.014.30.00.01.014.30.00.03.075.010.022.7
23Snoring6.040.04.028.61.033.33.042.90.00.03.075.017.038.6
24Nystagmus/strabismus7.046.78.057.10.00.02.028.61.0100.01.025.019.043.2
CAI average scores11.312.47.08.15.018.011.3
  • Percentages over 50% are in bold numbers. To calculate the Craniofacial Anomalies Index (CAI), 1 point is granted for the presence of each of the following characteristics for each patient. A total achievable score is 24. The average CAI per subtype is provided.

  • LDS, Loeys-Dietz syndrome; OSA, obstructive sleep apnoea; ROM, range of motion; SGS, Shprintzen-Goldberg syndrome; SMAD3, signal transducer in TGF-β; TGF-β, transforming growth factor-beta; TGFB2, TGF-β 2; TGFB3, TGF-β 3; TGFBR1, TGF-β receptor 1; TGFBR2, TGF-β receptor 2; TMD, temporomandibular disorder.