Brachydactyly, Type B1 malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Brachydactyly, Type B1

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12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Brachydactyly, Type B1:

Name: Brachydactyly, Type B1 51 24 12
Brachydactyly Type B 47 53 69
Brachydactyly B1 69 26
Bdb1 24 69
Brachydactyly, Type B 49
Bdb 69


Orphanet epidemiological data:

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


brachydactyly, type b1:
Inheritance: autosomal dominant inheritance


External Ids:

OMIM51 113000
Orphanet53 ORPHA93383
UMLS via Orphanet68 C1300267
ICD10 via Orphanet30 Q73.8
MedGen36 C1862112
MeSH38 D059327

Summaries for Brachydactyly, Type B1

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NIH Rare Diseases:47 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 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly and brachydactyly, combined b and e types, 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 hearing/vestibular/ear and limbs/digits/tail.

UniProtKB/Swiss-Prot:69 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:51 113000

Related Diseases for Brachydactyly, Type B1

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Graphical network of diseases related to Brachydactyly, Type B1:

Diseases related to brachydactyly, type b1

Symptoms for Brachydactyly, Type B1

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Brachydactyly, Type B1:

 63 53 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metacarpal bones63 hallmark (90%) HP:0001163
2 anonychia63 hallmark (90%) HP:0001798
3 short toe63 hallmark (90%) HP:0001831
4 short distal phalanx of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0009882
5 aplasia/hypoplasia of the distal phalanges of the toes63 hallmark (90%) HP:0010185
6 preaxial foot polydactyly63 occasional (7.5%) HP:0001841
7 synostosis of carpal bones63 53 occasional (7.5%) Occasional (29-5%) HP:0005048
8 abnormality of thumb phalanx63 occasional (7.5%) HP:0009602
9 symphalangism affecting the phalanges of the hand63 53 occasional (7.5%) Occasional (29-5%) HP:0009773
10 cutaneous finger syndactyly63 rare (5%) HP:0010554
11 micropenis63 HP:0000054
12 wide anterior fontanel63 HP:0000260
13 delayed cranial suture closure63 HP:0000270
14 delayed eruption of permanent teeth63 HP:0000696
15 syndactyly63 HP:0001159
16 ventricular septal defect63 HP:0001629
17 abnormality of the foot63 HP:0001760
18 hemivertebrae63 HP:0002937
19 thoracolumbar scoliosis63 HP:0002944
20 vertebral fusion63 HP:0002948
21 short long bone63 HP:0003026
22 hypoplastic sacrum63 HP:0004590
23 short middle phalanx of finger63 HP:0005819
24 type b brachydactyly63 53 Very frequent (99-80%) HP:0005831
25 joint contracture of the hand63 HP:0009473
26 aplasia/hypoplasia of the distal phalanges of the hand63 HP:0009835
27 broad thumb63 HP:0011304
28 camptodactyly63 HP:0012385
29 short foot53 Very frequent (99-80%)
30 absent fingernail53 Very frequent (99-80%)
31 finger syndactyly53 Occasional (29-5%)
32 2nd-5th toe middle phalangeal hypoplasia53 Very frequent (99-80%)
33 short metacarpal53 Very frequent (99-80%)
34 broad hallux phalanx53 Occasional (29-5%)

Drugs & Therapeutics for Brachydactyly, Type B1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachydactyly, Type B1

Genetic Tests for Brachydactyly, Type B1

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Genetic tests related to Brachydactyly, Type B1:

id Genetic test Affiliating Genes
1 Brachydactyly Type B126
2 Brachydactyly, Type B124 ROR2

Anatomical Context for Brachydactyly, Type B1

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MalaCards organs/tissues related to Brachydactyly, Type B1:


Animal Models for Brachydactyly, Type B1 or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly, Type B1:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.8NOG, ROR2
2MP:00053719.1NOG, ROR2

Publications for Brachydactyly, Type B1

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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

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Clinvar genetic disease variations for Brachydactyly, Type B1:

id Gene Variation Type Significance SNP ID Assembly Location
1ROR2NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs)insertionPathogenicrs886042428GRCh37Chr 9, 94486624: 94486625
2ROR2NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter)SNVPathogenicrs121909082GRCh37Chr 9, 94486511: 94486511
3ROR2NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter)SNVPathogenicrs104894122GRCh37Chr 9, 94486530: 94486530
4ROR2NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs)deletionPathogenicrs863223289GRCh37Chr 9, 94486527: 94486527
5ROR2NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs)deletionPathogenicrs863223290GRCh37Chr 9, 94488884: 94488888
6ROR2NM_004560.3(ROR2): c.2247G> A (p.Trp749Ter)SNVPathogenicrs104894121GRCh37Chr 9, 94486529: 94486529
7ROR2ROR2, 1-BP INS, 1366CinsertionPathogenicChr na, -1: -1
8ROR2NM_004560.3(ROR2): c.2244delC (p.Trp749Glyfs)deletionPathogenicrs863223292GRCh37Chr 9, 94486532: 94486532

Expression for genes affiliated with Brachydactyly, Type B1

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

Pathways for genes affiliated with Brachydactyly, Type B1

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

idSuper pathwaysScoreTop Affiliating Genes
19.1NOG, ROR2

GO Terms for genes affiliated with Brachydactyly, Type B1

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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
3BMP signaling pathwayGO:00305098.8NOG, ROR2

Sources for Brachydactyly, Type B1

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30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet