Brachydactyly, Type B1 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Brachydactyly, Type B1

About this section
49OMIM, 11diseasecard, 22GeneTests, 24GTR, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 47Novoseek, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Brachydactyly, Type B1:

Name: Brachydactyly, Type B1 49 11 22 24
Brachydactyly Type B 45 51 67
Bdb1 22 67
Brachydactyly, Type B 47
Brachydactyly B1 67
Bdb 67


Characteristics (Orphanet epidemiological data):

brachydactyly type b:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

External Ids:

OMIM49 113000
Orphanet51 93383
UMLS via Orphanet66 C1300267
ICD10 via Orphanet28 Q73.8
MedGen34 C1862112
MeSH36 D059327

Summaries for Brachydactyly, Type B1

About this section
NIH Rare Diseases:45 Brachydactyly type b is a very rare genetic condition characterized by disproportionately short fingers and toes. the ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. the thumb bones are always intact but are frequently flattened and/or split. the feet are usually similarly affected, but less severely. other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. only a few cases have been reported in the literature. this condition is caused by mutations in the ror2 gene. most cases have been shown to be inherited in an autosomal dominant fashion. last updated: 6/6/2011

MalaCards based summary: Brachydactyly, Type B1, also known as brachydactyly type b, is related to brachydactyly and robinow syndrome, and has symptoms including abnormality of the metacarpal bones, anonychia and short toe. An important gene associated with Brachydactyly, Type B1 is ROR2 (Receptor Tyrosine Kinase-Like Orphan Receptor 2), and among its related pathways is Cardiac Progenitor Differentiation. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:67 Brachydactyly B1: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature.

Description from OMIM:49 113000

Related Diseases for Brachydactyly, Type B1

About this section

Graphical network of diseases related to Brachydactyly, Type B1:

Diseases related to brachydactyly, type b1

Symptoms for Brachydactyly, Type B1

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 51 (show all 12)
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • terminal/third phalangeal bone of fingers hypoplasia
  • short foot/brachydactyly of toes
  • distal phalangeal bones of toes hypoplasia/absence
  • absent/small fingernails/anonychia of hands
  • autosomal dominant inheritance
  • carpal bones fusion/synostosis
  • syndactyly of fingers/interdigital palm
  • symphalangy of fingers
  • broad/bifid thumb
  • broad/bifid big toe

HPO human phenotypes related to Brachydactyly, Type B1:

(show all 30)
id Description Frequency HPO Source Accession
1 abnormality of the metacarpal bones hallmark (90%) HP:0001163
2 anonychia hallmark (90%) HP:0001798
3 short toe hallmark (90%) HP:0001831
4 short distal phalanx of finger hallmark (90%) HP:0009882
5 aplasia/hypoplasia of the distal phalanges of the toes hallmark (90%) HP:0010185
6 preaxial foot polydactyly occasional (7.5%) HP:0001841
7 synostosis of carpal bones occasional (7.5%) HP:0005048
8 abnormality of thumb phalanx occasional (7.5%) HP:0009602
9 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
10 cutaneous finger syndactyly rare (5%) HP:0010554
11 autosomal dominant inheritance HP:0000006
12 micropenis HP:0000054
13 wide anterior fontanel HP:0000260
14 delayed cranial suture closure HP:0000270
15 delayed eruption of permanent teeth HP:0000696
16 syndactyly HP:0001159
17 ventricular septal defect HP:0001629
18 abnormality of the foot HP:0001760
19 anonychia HP:0001798
20 hemivertebrae HP:0002937
21 thoracolumbar scoliosis HP:0002944
22 vertebral fusion HP:0002948
23 short long bone HP:0003026
24 hypoplastic sacrum HP:0004590
25 short middle phalanx of finger HP:0005819
26 type b brachydactyly HP:0005831
27 joint contracture of the hand HP:0009473
28 aplasia/hypoplasia of the distal phalanges of the hand HP:0009835
29 broad thumb HP:0011304
30 camptodactyly HP:0012385

Drugs & Therapeutics for Brachydactyly, Type B1

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachydactyly, Type B1

Genetic Tests for Brachydactyly, Type B1

About this section

Genetic tests related to Brachydactyly, Type B1:

id Genetic test Affiliating Genes
1 Brachydactyly, Type B122 ROR2
2 Brachydactyly Type B124

Anatomical Context for Brachydactyly, Type B1

About this section

MalaCards organs/tissues related to Brachydactyly, Type B1:


Animal Models for Brachydactyly, Type B1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Brachydactyly, Type B1:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1NOG, ROR2
2MP:00053778.8NOG, ROR2

Publications for Brachydactyly, Type B1

About this section

Articles related to Brachydactyly, Type B1:

A new mutation in the gene ROR2 causes brachydactyly type B1. (24954533)
Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. (21377971)
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. (19461659)
Brachydactyly type B1: report of a family with de novo ROR2 mutation. (17101003)

Variations for Brachydactyly, Type B1

About this section

Clinvar genetic disease variations for Brachydactyly, Type B1:

id Gene Variation Type Significance SNP ID Assembly Location
1ROR2NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter)single nucleotide variantPathogenicrs121909082GRCh37Chr 9, 94486511: 94486511
2ROR2NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter)single nucleotide variantPathogenicrs104894122GRCh37Chr 9, 94486530: 94486530
3ROR2NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs)deletionPathogenicGRCh37Chr 9, 94486527: 94486527
4ROR2NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs)deletionPathogenicGRCh37Chr 9, 94488884: 94488888
5ROR2NM_004560.3(ROR2): c.2247G> A (p.Trp749Ter)single nucleotide variantPathogenicrs104894121GRCh37Chr 9, 94486529: 94486529
6ROR2ROR2, 1-BP INS, 1366CinsertionPathogenic
7ROR2NM_004560.3(ROR2): c.2244delC (p.Trp749Glyfs)deletionPathogenicGRCh37Chr 9, 94486532: 94486532

Expression for genes affiliated with Brachydactyly, Type B1

About this section
Search GEO for disease gene expression data for Brachydactyly, Type B1.

Pathways for genes affiliated with Brachydactyly, Type B1

About this section

Pathways related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NOG, ROR2

GO Terms for genes affiliated with Brachydactyly, Type B1

About this section

Biological processes related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:00427339.3NOG, ROR2
2negative regulation of canonical Wnt signaling pathwayGO:00900909.1NOG, ROR2
3skeletal system developmentGO:00015019.1NOG, ROR2
4BMP signaling pathwayGO:00305099.0NOG, ROR2

Sources for Brachydactyly, Type B1

About this section
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet