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. 2021 Dec 16;59(10):938–946. doi: 10.1136/jmedgenet-2021-107695

Table 1.

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

Craniofacial anomalies LDS1
(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
1 Facial asymmetry 13.3 5.0 35.7 0.0 0.0 1.0 14.3 0.0 0.0 0.0 0.0 8.0 18.2
2 Craniosynostosis 2.0 13.3 4.0 28.6 0.0 0.0 0.0 0.0 0.0 0.0 4.0 100.0 10.0 22.7
3 Broad forehead 7.0 46.7 10.0 71.4 0.0 0.0 4.0 57.1 0.0 0.0 3.0 75.0 24.0 54.5
4 Flat midface projection/infraorbital flatness 13.0 86.7 14.0 100.0 2.0 66.7 3.0 42.9 1.0 100.0 4.0 100.0 37.0 84.1
5 Mandibular hypoplasia/retrognathic mandible 14.0 93.3 13.0 92.9 2.0 66.7 4.0 57.1 0.0 0.0 4.0 100.0 37.0 84.1
6 Cleft palate/bifid uvula 6.0 40.0 10.0 71.4 0.0 0.0 0.0 0.0 0.0 0.0 1.0 25.0 17.0 38.6
Eyes
7 Abnormal eye shape/downslanting palpebral fissures 11.0 73.3 10.0 71.4 1.0 33.3 6.0 85.7 0.0 0.0 4.0 100.0 32.0 72.7
8 Hypertelorism 5.0 33.3 7.0 50.0 0.0 0.0 2.0 28.6 0.0 0.0 4.0 100.0 18.0 40.9
9 Telecanthus 1.0 6.7 6.0 42.9 0.0 0.0 1.0 14.3 0.0 0.0 4.0 100.0 12.0 27.3
10 Vertical dystopia 5.0 33.3 7.0 50.0 0.0 0.0 3.0 42.9 1.0 100.0 3.0 75.0 19.0 43.2
11 Exopthalmos 3.0 20.0 6.0 42.9 0.0 0.0 1.0 14.3 0.0 0.0 4.0 100.0 14.0 31.8
12 Blue sclera 6.0 40.0 4.0 28.6 1.0 33.3 1.0 14.3 0.0 0.0 3.0 75.0 15.0 34.1
13 Scleral show 10.0 66.7 8.0 57.1 1.0 33.3 3.0 42.9 1.0 100.0 4.0 100.0 27.0 61.4
14 Blepharoptosis 11.0 73.3 9.0 64.3 2.0 66.7 4.0 57.1 0.0 0.0 3.0 75.0 29.0 65.9
Nose
15 Slit nares/bulbous tip 10.0 66.7 8.0 57.1 3.0 100.0 5.0 71.4 0.0 0.0 3.0 75.0 29.0 65.9
Lips
16 Abnormal lip shape (thin upper lip vermillion, indistinct philtrum) 9.0 60.0 9.0 64.3 2.0 66.7 4.0 57.1 0.0 0.0 4.0 100.0 28.0 63.6
Ears
17 Low-set ears 11.0 73.3 10.0 71.4 3.0 100.0 4.0 57.1 0.0 0.0 4.0 100.0 32.0 72.7
18 Abnormal ear size 4.0 26.7 3.0 21.4 0.0 0.0 1.0 14.3 0.0 0.0 3.0 75.0 11.0 25.0
Skin
19 Skin translucency/nasal dorsal vein 9.0 60.0 8.0 57.1 2.0 66.7 3.0 42.9 0.0 0.0 4.0 100.0 26.0 59.1
Functional anomalies
20 Hearing deficiency 6.0 40.0 2.0 14.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 8.0 18.2
21 TMD 7.0 46.7 6.0 42.9 1.0 33.3 1.0 14.3 1.0 100.0 1.0 25.0 17.0 38.6
Limited ROM 0.0 0.0 1.0 7.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 2.3
Deviation 2.0 13.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 25.0 3.0 6.8
Sounds 5.0 33.3 5.0 35.7 1.0 33.3 1.0 14.3 1.0 100.0 1.0 25.0 14.0 31.8
Arthralgia/patient-reported pain 4.0 26.7 2.0 14.3 1.0 33.3 1.0 14.3 1.0 100.0 1.0 25.0 10.0 22.7
22 OSA 4.0 26.7 2.0 14.3 0.0 0.0 1.0 14.3 0.0 0.0 3.0 75.0 10.0 22.7
23 Snoring 6.0 40.0 4.0 28.6 1.0 33.3 3.0 42.9 0.0 0.0 3.0 75.0 17.0 38.6
24 Nystagmus/strabismus 7.0 46.7 8.0 57.1 0.0 0.0 2.0 28.6 1.0 100.0 1.0 25.0 19.0 43.2
CAI average scores 11.3 12.4 7.0 8.1 5.0 18.0 11.3

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.