Brachydactyly, Type B1 (BDB1) malady

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

Aliases & Classifications for Brachydactyly, Type B1

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11Disease Ontology, 12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Brachydactyly, Type B1:

Name: Brachydactyly, Type B1 52 24 12
Brachydactyly Type B 48 54 70
Bdb1 11 24 70
Brachydactyly B1 70 27
Brachydactyly, Type B 50
Brachydactyly Type B1 11
Bdb 70


Orphanet epidemiological data:

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


brachydactyly, type b1:
Inheritance: autosomal dominant inheritance


External Ids:

OMIM52 113000
Disease Ontology11 DOID:0110969
Orphanet54 ORPHA93383
UMLS via Orphanet69 C1300267
ICD10 via Orphanet31 Q73.8
MedGen37 C1862112
MeSH39 D059327

Summaries for Brachydactyly, Type B1

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NIH Rare Diseases:48 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 Array, Array and Array. 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 phenotype hearing/vestibular/ear.

Disease Ontology:11 A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22.

UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 54 64 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short foot64 54 Very frequent (99-80%) HP:0001773
2 absent fingernail64 54 Very frequent (99-80%) HP:0001817
3 synostosis of carpal bones64 54 Occasional (29-5%) HP:0005048
4 type b brachydactyly64 54 Very frequent (99-80%) HP:0005831
5 finger syndactyly64 54 Occasional (29-5%) HP:0006101
6 2nd-5th toe middle phalangeal hypoplasia64 54 Very frequent (99-80%) HP:0008083
7 symphalangism affecting the phalanges of the hand64 54 Occasional (29-5%) HP:0009773
8 short distal phalanx of finger64 54 Very frequent (99-80%) HP:0009882
9 short metacarpal64 54 Very frequent (99-80%) HP:0010049
10 broad hallux phalanx64 54 Occasional (29-5%) HP:0010059
11 micropenis64 HP:0000054
12 wide anterior fontanel64 HP:0000260
13 delayed cranial suture closure64 HP:0000270
14 delayed eruption of permanent teeth64 HP:0000696
15 syndactyly64 HP:0001159
16 ventricular septal defect64 HP:0001629
17 abnormality of the foot64 HP:0001760
18 anonychia64 HP:0001798
19 hemivertebrae64 HP:0002937
20 thoracolumbar scoliosis64 HP:0002944
21 vertebral fusion64 HP:0002948
22 short long bone64 HP:0003026
23 hypoplastic sacrum64 HP:0004590
24 short middle phalanx of finger64 HP:0005819
25 joint contracture of the hand64 HP:0009473
26 aplasia/hypoplasia of the distal phalanges of the hand64 HP:0009835
27 cutaneous finger syndactyly64 HP:0010554
28 broad thumb64 HP:0011304
29 camptodactyly64 HP:0012385

MGI Mouse Phenotypes related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1NOG, ROR2

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 B127
2 Brachydactyly, Type B124 ROR2

Anatomical Context for Brachydactyly, Type B1

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MalaCards organs/tissues related to Brachydactyly, Type B1:


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)deletionPathogenicrs863223289GRCh38Chr 9, 91724245: 91724245
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, 1366CinsertionPathogenic
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
1BMP signaling pathwayGO:00305099.8NOG, ROR2
2cell differentiationGO:00301549.8NOG, ROR2
3embryonic digit morphogenesisGO:00427339.8NOG, ROR2
4negative regulation of canonical Wnt signaling pathwayGO:00900909.7NOG, ROR2
5skeletal system developmentGO:00015019.1NOG, ROR2

Sources for Brachydactyly, Type B1

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet