Brachydactyly type B2

General Information (adopted from Orphanet):

Synonyms, Signs: BDB2
Number of Symptoms 32
OrphanetNr: 140908
OMIM Id: 611377
ICD-10: Q73.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000540) Hypermetropia occasional [HPO] 99 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment occasional [HPO] 524 / 7739
3
 (HPO:0010185) Aplasia/Hypoplasia of the distal phalanges of the toes frequent [HPO] 4 / 7739
4
 (HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand common [HPO] 9 / 7739
5
 (HPO:0005048) Synostosis of carpal bones Frequent [Orphanet] 39 / 7739
6
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
7
 (HPO:0010554) Cutaneous finger syndactyly frequent [HPO] 39 / 7739
8
 (HPO:0010621) Cutaneous syndactyly of toes frequent [HPO] 36 / 7739
9
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand typical [HPO] 13 / 7739
10
 (HPO:0009700) Finger symphalangism Frequent [Orphanet] 55 / 7739
11
 (HPO:0008368) Tarsal synostosis typical [HPO] 21 / 7739
12
 (HPO:0010034) Short 1st metacarpal 7/10 [HPO] 19 / 7739
13
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
14
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
15
 (HPO:0009702) Carpal synostosis 10/10 [HPO] 26 / 7739
16
 (HPO:0010194) Aplasia/Hypoplasia of the middle phalanges of the toes frequent [HPO] 4 / 7739
17
 (HPO:0001204) Distal symphalangism of hands 5/5 [HPO] 13 / 7739
18
 (HPO:0001857) Short distal phalanx of toe 6 / 7739
19
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
20
 (HPO:0009623) Proximal placement of thumb common [HPO] 50 / 7739
21
 (HPO:0006109) Absent phalangeal crease common [HPO] 4 / 7739
22
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
23
 (HPO:0006152) Proximal symphalangism of hands 16/16 [HPO] 9 / 7739
24
 (HPO:0008386) Aplasia/Hypoplasia of the nails common [HPO] 4 / 7739
25
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
26
 (OMIM) Variable terminal deficiency of toes 1 / 7739
27
 (OMIM) Absent distal and absent/hypoplastic middle phalanges 1 / 7739
28
 (OMIM) Absent distal and middle phalanges 2 / 7739
29
 (OMIM) Proximal interphalangeal joint fusion (symphalangism) 1 / 7739
30
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
31
 (OMIM) Variable terminal deficiency of fingers 1 / 7739
32
 (OMIM) (Type 1) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly.
Clinical Description OMIM Brachydactyly type B (see BDB1, 113000) is characterized by terminal deficiency of fingers and toes and is caused by heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2; 602337) in most patients. Lehmann et al. ...
Molecular genetics OMIM Lehmann et al. (2007) screened the NOG gene for mutation in patients with BDB2 and identified 6 different heterozygous missense mutations (e.g., 602991.0017). In contrast to previously described loss-of-function mutations in NOG, which cause a range of conditions ...