Family | Genotype | Phenotype of index patient | |||||
Ectrodactyly | Monodactyly | Tibia aplasia/hypoplasia | Other features | ||||
Hands | Feet | Hands | Feet | ||||
1 | 17p13.3 duplication | +/+ | −/− | −/− | v | +/− | – |
2 | NA | NA | NA | NA | + | NA | |
3 | +/+ | +/+ | −/− | −/− | +/+ | – | |
4 | +/+ | −/+ | −/− | −/− | −/− | – | |
5 | +/+ | +/− | v | −/− | +/− | – | |
6 | NA | NA | NA | NA | + | NA | |
7 | +/+ | +/+ | −/− | −/− | +/+ | – | |
8 | +/+ | −/+ | −/− | −/− | +/+ | – | |
9 | +/+ | −/− | −/− | −/− | −/− | – | |
10 | +/+ | +/+ | −/− | −/− | −/− | – | |
11 | +/− | −/− | −/− | −/− | +/− | – | |
12 | +/+ | −/+ | −/− | −/− | +/+ | – | |
13 | +/− | −/− | −/− | −/− | −/+ | – | |
14 | +/− | +/+ | −/− | −/− | +/+ | – | |
15 | +/+ | −/+ | −/− | −/− | −/− | – | |
16 | +/+ | +/+ | −/− | −/− | +/+ | – | |
17 | +/+ | +/+ | −/− | −/− | −/− | – | |
18 | 10q24 duplication | +/+ | +/+ | −/− | −/− | −/− | Oligodontia, learning disability |
19 | +/+ | +/+ | −/− | −/− | −/− | – | |
20 | + | + | −/− | −/− | −/− | – | |
21 | −/+ | +/+ | −/− | −/− | −/− | – | |
22 | −/− | −/− | +/+ | +/+ | −/− | – | |
23 | +/+ | +/+ | −/− | −/− | −/− | Preaxial polydactyly of hand unilateral | |
24 | +/+ | +/+ | −/− | −/− | −/− | – | |
25 | +/+ | +/+ | −/− | −/− | −/− | Preaxial polydactyly of hand unilateral | |
26 | −/+ | −/− | +/− | +/+ | −/− | – | |
27 | +/+ | +/+ | −/− | −/− | −/− | Intellectual disability | |
28 | TP63 mutation | −/− | +/+ | −/− | −/− | −/− | – |
29 | +/+ | +/+ | −/− | −/− | −/− | – | |
30 | +/+ | +/+ | −/− | −/− | −/− | – | |
31 | +/− | −/− | −/− | −/− | −/− | – | |
32 | +/+ | +/+ | −/− | −/− | −/− | – | |
33 | dup10q24, dup17p13.3 and TP63 mutation excluded | −/− | +/+ | −/− | −/− | −/− | – |
34 | −/− | +/+ | −/− | −/− | −/− | – | |
35 | −/− | +/+ | −/− | −/− | −/− | – | |
36 | +/+ | +/+ | −/− | −/− | −/− | Aplasia/hypoplasia of tibiae and fibulae, aplasia/hypoplasia of radius and ulna unilateral | |
37 | −/− | +/+ | −/− | −/− | −/− | Aplasia/hypoplasia of fibulae | |
38 | −/− | +/+ | −/− | −/− | −/− | – | |
39 | −/− | +/+ | −/− | −/− | −/− | – | |
40 | −/+ | +/+ | −/− | −/− | −/− | – | |
41 | −/− | +/+ | −/− | −/− | −/− | – | |
42 | −/− | +/+ | −/− | −/− | −/+ | Hypoplasia of the third toes, hypoplasia of the tibia/fibula unilateral | |
43 | +/+ | +/+ | −/− | −/− | −/− | Reduction defects of lower legs and forearms | |
44 | +/+ | +/+ | −/− | −/− | −/− | – | |
45 | +/+ | +/+ | −/− | −/− | −/− | – | |
46 | +/+ | +/+ | −/− | −/− | −/− | Renal duplication, bifid uvula | |
47 | +/+ | +/+ | −/− | −/− | −/− | Hypoplasia of fibulae | |
48 | +/+ | +/+ | −/− | −/− | −/− | Aplasia of fibulae | |
49 | −/+ | −/− | +/− | −/− | −/− | Hypoplasia of ulna unilateral | |
50 | + | + | −/− | −/− | −/− | Short stature, ectodermal dysplasia | |
51 | +/+ | −/− | −/− | −/− | −/− | Postaxial polydactyly of hands, sparse blond hair, small teeth, cleft palate, dysplastic kidneys, imperforate anus, micropenis, microcephaly, intellectual disability | |
52 | −/− | +/− | −/− | −/− | −/− | – | |
53 | + | + | −/− | −/− | −/− | Familial cleft lip/palate | |
54 | +/+ | +/+ | −/− | −/− | −/− | Short stature, mild intellectual disability | |
55 | + | + | −/− | −/− | −/− | Light hair and skin | |
56 | +/+ | −/− | −/− | −/− | −/− | Pre-axial polydactyly of feet |
+, present; −, absent; ±/±, right/left.