Table 2.
Prevalence of Nonreproductive Phenotypes Across Genetic Groups
| Non Reproductive Phenotypes | KAL1 | FGF8/FGFR1 | PROK2/PROKR2 | CHD7 | HS6ST1 | Gene-Negative Group |
|---|---|---|---|---|---|---|
| BMI, mean ± SEM (n) | 27 ± 1.5 (19) |
25.5 ± 0.9 (38) |
28 ± 2.2 (18) |
23.5 ± 1.3 (17) |
25 ± 3.8 (4) |
26 ± 0.7 (52) |
| Olfactory function | ||||||
| Hyposmic | 3% (1/38) |
30% (16/54) |
6% (2/31) |
18% (4/22) |
50% (2/4) |
34% (23/68) |
| Anosmic | 97% (37/38) |
70% (38/54) |
94% (29/31) |
82% (18/22) |
50% (2/4) |
66% (45/68) |
| Synkinesia | 43% (13/30) |
7% (3/44) |
26% (7/27) |
5% (1/20) |
0 (0/3) |
11% (6/53) |
| Dental agenesis | 0 (0/9) |
39% (13/33) |
0 (0/19) |
13% (2/15) |
0 (0/3) |
3% (1/36) |
| Sindactyly/polidactyly/camptodactyly | 0 (0/20) |
23% (8/35) |
0 (0/21) |
0 (0/20) |
0 (0/4) |
0 (0/55) |
| Hearing loss | 14% (3/21) |
16% (7/43) |
4% (1/24) |
40% (8/20) |
0 (0/4) |
11% (6/55) |
| Renal agenesis | 18% (3/17) |
0 (0/20) |
0 (0/16) |
0 (0/7) |
0 (0/4) |
17% (4/23) |
| Cleft lip/palate | 0 (0/30) |
11% (5/47) |
0 (0/26) |
9% (2/22) |
25% (1/4) |
6% (4/64) |
| Clinodactyly | 5% (1/20) |
9% (3/35) |
0 (0/21) |
5% (1/20) |
25% (1/4) |
4% (2/55) |
| Scoliosis/kyphosis | 10% (2/20) |
6% (2/35) |
10% (2/21) |
5% (1/20) |
0 (0/4) |
24% (13/55) |
| Excessive joint mobility | 10% (2/20) |
0 (0/35) |
10% (2/21) |
5% (1/20) |
0 (0/4) |
13% (7/55) |
| Short limb bones | 5% (1/20) |
11% (4/35) |
5% (1/21) |
10% (2/20) |
25% (1/4) |
2% (1/55) |
| Short fourth metatarsal | 10% (2/20) |
14% (5/35) |
5% (1/21) |
5% (1/20) |
0 (0/4) |
13% (7/55) |
| Flat feet | 5% (1/20) |
23% (8/35) |
29% (6/21) |
5% (1/20) |
50% (2/4) |
11% (6/55) |
| Congenital heart disease | 0 (0/9) |
0 (0/30) |
0 (0/14) |
6% (1/18) |
0 (0/3) |
0 (0/48) |
| External ear defect | 0 (0/10) |
0 (0/33) |
0 (0/17) |
0 (0/18) |
0 (0/4) |
0 (0/52) |
| Choanal atresia | 0 (0/11) |
0 (0/34) |
0 (0/16) |
5% (1/20) |
0 (0/4) |
0 (0/49) |
| Coloboma | 0 (0/11) |
3% (1/34) |
0 (0/16) |
0 (0/19) |
0 (0/4) |
2% (1/52) |
Abbreviation: BMI, body mass index. n indicates the total number of probands with measured BMI. For qualitative phenotypes, numerator in parentheses characterizes the number of probands that are positive to phenotypic feature. Denominator represents the total number of probands with available information.