Brachydactyly type B

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY, TYPE B
BDB
BDB1
Number of Symptoms 35
OrphanetNr: 93383
OMIM Id: 113000
ICD-10: Q73.8
UMLs: C1300267
MeSH:
MedDRA:
Snomed: 389168002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

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:0000054) Micropenis 257 / 7739
2
 (HPO:0000260) Wide anterior fontanel 55 / 7739
3
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
4
 (HPO:0000696) Delayed eruption of permanent teeth 12 / 7739
5
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
6
 (HPO:0009473) Joint contracture of the hand 84 / 7739
7
 (HPO:0001760) Abnormality of the foot 96 / 7739
8
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
9
 (HPO:0012385) Camptodactyly 113 / 7739
10
 (HPO:0010055) Broad hallux Occasional [Orphanet] 56 / 7739
11
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
12
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
13
 (HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 9 / 7739
14
 (HPO:0005831) Type B brachydactyly 3 / 7739
15
 (HPO:0002937) Hemivertebrae 41 / 7739
16
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
17
 (HPO:0003026) Short long bone 51 / 7739
18
 (HPO:0002948) Vertebral fusion 28 / 7739
19
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
20
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
21
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
22
 (HPO:0004590) Hypoplastic sacrum 4 / 7739
23
 (HPO:0010554) Cutaneous finger syndactyly rare [HPO:skoehler] 39 / 7739
24
 (HPO:0009700) Finger symphalangism Occasional [Orphanet] 55 / 7739
25
 (HPO:0011304) Broad thumb 39 / 7739
26
 (HPO:0001159) Syndactyly 140 / 7739
27
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
28
 (HPO:0002944) Thoracolumbar scoliosis 13 / 7739
29
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
30
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
31
 (HPO:0001798) Anonychia 28 / 7739
32
 (HPO:0001629) Ventricular septal defect 316 / 7739
33
 (OMIM) Aplastic/hypoplastic fingernails 2 / 7739
34
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
 (OMIM) Symphalangism 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Involvement of the distal phalanges and the association of nail aplasia distinguishes type B brachydactyly, which is said (Gong et al., 1999) to have been the first of the heritable brachydactylies to be described in the medical literature ...
Molecular genetics OMIM The ROR2 gene (602337) is localized in the region of 9q22 to which the BDB1 gene had been mapped. Furthermore, mice homozygous for an intragenic lacZ insertion into Ror2 were found by DeChiara et al. (2000) to have ...