Table 1 Types of isolated brachydactyly

BDA1

BDA1

112,500

Short middle phalanges of all fingers and short proximal phalanx of the thumb. The middle phalanx may be absent in severe cases

IHH

600,726

[4]

BDA1B

607,004

5p13.3-p13.2

None

[5]

BDA1C

615,072

GDF5

601,146

[6]

BDA1D

616,849

BMPR1B

603,248

[7]

BDA2

112,600

Short middle phalanx with clinodactyly of the index fingers and second toes

BMPR1B

603,248

[8]

GDF5

601,146

[9]

BMP2

112,261

[10]

BDA3

112,700

Short middle phalanx of the little fingers with or without clinodactyly

HOXD13

142,989

[11]

BDA4

112,800

Short middle phalanx of the index and little fingers. The middle phalanges of the lateral four toes are frequently involved

HOXD13

142,989

[12]

BDB1

113,000

Hypoplastic or absent distal phalanges of digits 2–5 with or without nail dysplasia, the fusion of the middle and distal phalanges, abroad or bifid thumb, and sometimes distal and proximal symphalangism or syndactyly

ROR2

602,337

[13,14,15]

BDB2

611,377

Hypoplasia of distal phalanges with distal and proximal symphalangism, fusion of carpal or tarsal bones, and partial cutaneous syndactyly

NOG

602,991

[16]

BDC

113,100

Brachymesophalangy of the index, middle and little fingers with preservation of the ring finger. The index and middle fingers show hyperphalangism and their most proximal phalanges have abnormal configuration lending to ulnar deviation. The thumb metacarpals are slightly short

GDF5

601,146

[17]

BDD

113,200

Stub thumbs (short distal phalanges of the thumbs). The big toes may be similarly affected

HOXD13

142,989

[18]

BDE1

113,300

Short metacarpal IV, with/without short metatarsal IV (possible involvement of an isolated metatarsal)

HOXD13

142,989

[18]

BDE2

613,382

Short metacarpals IV and V (and metatarsals) with short distal phalanx of the thumb

PTHLH

168,470

[19]

BDE3

None

Short metacarpals without phalangeal involvement

None

None

[20]