Table 2 Clinical manifestation of ROR2 causing BDB1

1

c.1324C > T

p.(Arg442*)

Homozygous individuals exhibited features of recessive Robinow syndrome in conjunction with severe recessive brachydactyly

[39]

2

c.2246G > A

p.(Trp749*)

The patients have classical BDB1 with bilateral symmetry of the deformities

[41]

3

c.2247G > A

p.(Trp749*)

An English family with typical BDB1. In addition, they have a short philtrum and a prominent nose with a high bridge and bulbous tip; A Chinese family had classical BDB1

[42, 43]

4

c.2265C > A

p.(Tyr755*)

These families displayed classical BDB1, with (or without) a prominent nose with a bulbous tip, wide-spaced eyes, and a short philtrum

[13, 40, 41, 44]

5

c.2273C > A

p.(Ser758*)

Classical BDB1

[37]

6

c.2278C > T

p.(Gln760*)

The proband lacked distal phalanges and nails and had hypoplastic middle phalanges of digits 2–5

[14]

7

c.1321_1325delCGGCG

p.(Arg441Thrfs*16)

Heterozygous individuals exhibited classical BDB1, whereas homozygous individuals showed severe skeletal defects, primarily affecting the distal limbs and the spine

[14]

8

c.1394_1395delTC

p.(Leu465Glnfs*59)

No detailed clinical description

[45]

9

c.1397_1398delAA

p.(Lys466Argfs*58)

Variable degrees of hypoplastic or shortened distal phalanges on digits 2–5 of the hands. Very few of the toes were affected

[46]

10

c.1937_1943delACAAGCT

p.(Tyr646Cysfs*57)

Homozygous individuals exhibited features of recessive Robinow syndrome in conjunction with severe brachydactyly

[47]

11

c.2244delC

p.(Trp749Glyfs*25)

The patients exhibited atypical BDB1 and cutaneous syndactyly of varying degrees

[38]

12

c.2249delG

p.(Gly750Alafs*24)

The morphologic abnormalities were more severe, such as a bifid thumb and syndactyly of the central digits (digits 2 and 4)

[41]

13

c.1366dupC

p.(Leu456Profs*3)

The patients exhibited bilateral or unilateral fourth finger distal symphalangism with (or without) absence of the distal phalanx or fusion of the phalangeal bones on the hand radiograph

[48]

14

c.1398dupA

p.(Glu467Argfs*58)

They exhibited the absence of distal phalanges of the 4^th finger and hypoplasia of distal phalanges of fingers 2, 3, and 5, with or without nail dysplasia

[14]

15

c.1386 + 3_1386 + 5delCTCins19

p.(Ala463fs*64)

No detailed clinical description

[14]