BBDS
MCID: BNT003
MIFTS: 43

Bent Bone Dysplasia Syndrome (BBDS)

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

Aliases & Classifications for Bent Bone Dysplasia Syndrome

MalaCards integrated aliases for Bent Bone Dysplasia Syndrome:

Name: Bent Bone Dysplasia Syndrome 56 52 73 29 13 6 71
Bbds 56 73
Perinatal Lethal Bent Bone Dysplasia 58
Fgfr2-Related Bent Bone Dysplasia 58
Bent Bone Dysplasia -Fgfr2 Type 52
Dysplasia, Bent Bone Syndrome 39

Characteristics:

Orphanet epidemiological data:

58
fgfr2-related bent bone dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
bent bone dysplasia syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Bent Bone Dysplasia Syndrome

NIH Rare Diseases : 52 Bent bone dysplasia syndrome is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis , underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia , and bent long bones. Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia ). This condition is associated with mutations in the FGFR2 gene .

MalaCards based summary : Bent Bone Dysplasia Syndrome, also known as bbds, is related to breast disease and rhinitis. An important gene associated with Bent Bone Dysplasia Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Pathways in cancer. Affiliated tissues include bone, breast and eye, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 73 Bent bone dysplasia syndrome: A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.

More information from OMIM: 614592

Related Diseases for Bent Bone Dysplasia Syndrome

Graphical network of the top 20 diseases related to Bent Bone Dysplasia Syndrome:



Diseases related to Bent Bone Dysplasia Syndrome

Symptoms & Phenotypes for Bent Bone Dysplasia Syndrome

Human phenotypes related to Bent Bone Dysplasia Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
4 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
5 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
8 megalocornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000485
9 coronal craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004440
10 congenital stationary night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007642
11 decreased calvarial ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0005474
12 short clavicles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000894
13 hypoplastic ischia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003175
14 bell-shaped thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001591
15 hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001007
16 natal tooth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000695
17 extramedullary hematopoiesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001978
18 overfolding of the superior helices 58 31 hallmark (90%) Very frequent (99-80%) HP:0004453
19 steep acetabular roof 58 31 hallmark (90%) Very frequent (99-80%) HP:0010455
20 metopic depression 58 31 hallmark (90%) Very frequent (99-80%) HP:0011223
21 incomplete ossification of pubis 58 31 hallmark (90%) Very frequent (99-80%) HP:0030042
22 abnormality of the periosteum 58 31 hallmark (90%) Very frequent (99-80%) HP:0040166
23 clitoral hypertrophy 31 hallmark (90%) HP:0008665
24 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
25 bowing of the legs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002979
26 malar flattening 31 HP:0000272
27 clitoromegaly 58 Very frequent (99-80%)
28 abnormality of the lower limb 58 Occasional (29-5%)
29 abnormally large globe 31 HP:0001090
30 abnormality of the outer ear 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
megalophthalmos

Skeletal Hands:
brachydactyly
areas of periosteal reaction
areas of deficient ossification

Skeletal Skull:
coronal craniosynostosis
diminished mineralization of the calvarium

Chest External Features:
bell-shaped thorax

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic clavicles
decreased mineralization of inferior margin of scapula

Head And Neck Head:
open metopic suture

Abdomen Liver:
hepatosplenomegaly (rare)

Skeletal Pelvis:
narrow acetabular roof
narrowed ischia
decreased mineralization of pubis

Hematology:
hepatosplenomegaly, with extramedullary hematopoiesis (rare)

Head And Neck Ears:
low-set ears
overfolded superior helix
deficient auricle

Head And Neck Face:
micrognathia
midface hypoplasia

Genitourinary External Genitalia Female:
clitoromegaly

Skin Nails Hair Hair:
hirsutism

Head And Neck Mouth:
gingival hyperplasia

Head And Neck Teeth:
prenatal teeth

Abdomen Spleen:
hepatosplenomegaly (rare)

Skeletal Limbs:
bending of long bones to varying degrees, particularly femora
prominent periosteum

Clinical features from OMIM:

614592

GenomeRNAi Phenotypes related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.62 ERBB2 FGFR2

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Bent Bone Dysplasia Syndrome

Genetic Tests for Bent Bone Dysplasia Syndrome

Genetic tests related to Bent Bone Dysplasia Syndrome:

# Genetic test Affiliating Genes
1 Bent Bone Dysplasia Syndrome 29 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome

MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

40
Bone, Breast, Eye, Brain, Heart, Thyroid

Publications for Bent Bone Dysplasia Syndrome

Articles related to Bent Bone Dysplasia Syndrome:

(show all 34)
# Title Authors PMID Year
1
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 56 6
22387015 2012
2
Fiberoptic Bronchoscopic Balloon Dilatation of Bronchial Stenosis in Children. 61
30829897 2019
3
Nuclear FGFR2 regulates musculoskeletal integration within the developing limb. 61
30620790 2019
4
Single brand, fully-covered, self-expandable metal stent for the treatment of benign biliary disease: when should stents be removed? 61
29856174 2019
5
Factors influencing disability in patients with chronic low back pain attending a tertiary hospital in sub-Saharan Africa. 61
30646894 2019
6
Blood-borne and sexually transmitted infections: a cross-sectional study in a Swiss prison. 61
30373535 2018
7
An efficient biomarker panel for diagnosis of breast cancer using surface-enhanced laser desorption ionization time-of-flight mass spectrometry. 61
29456844 2018
8
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. 61
28595297 2017
9
Biomarkers expression in benign breast diseases and risk of subsequent breast cancer: a case-control study. 61
28470951 2017
10
Continuous-Flow O-Alkylation of Biobased Derivatives with Dialkyl Carbonates in the Presence of Magnesium-Aluminium Hydrotalcites as Catalyst Precursors. 61
28140521 2017
11
Cyclohexenylboration of Aldehydes and Ketones with the Borabicyclo[3.3.2]decanes (BBDs). 61
26284657 2015
12
Endoscopic treatment of nonstricture-related benign biliary diseases using covered self-expandable metal stents. 61
25521570 2015
13
Positive Association of Fibroadenomatoid Change with HER2-Negative Invasive Breast Cancer: A Co-Occurrence Study. 61
26098961 2015
14
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. 61
24908667 2014
15
(E)-2-boryl 1,3-dienes from the 10-TMS-9-BBDs: highly selective reagents for the asymmetric synthesis of anti-α,β-disubstituted β-allenylamines from the allylboration of aldimines. 61
25003976 2014
16
Molecular dynamics analysis of the interaction between the human BCL6 BTB domain and its SMRT, NcoR and BCOR corepressors: the quest for a consensus dynamic pharmacophore. 61
24793055 2014
17
[Effects of mechanical transplanting of rice with controlled release bulk blending fertilizer on rice yield and soil fertility]. 61
24984497 2014
18
Breast-feeding and benign breast disease. 61
22185539 2012
19
Benign breast lesions in an African population: A 25-year histopathological review of 1864 cases. 61
22529500 2011
20
Optimisation of ultra-performance LC conditions using response surface methodology for rapid separation and quantitative determination of phenolic compounds in Artemisia minor. 61
21140416 2010
21
(E)-2-boryl-1,3-butadiene derivatives of the 10-TMS-9-BBDs: highly selective reagents for the asymmetric synthesis of anti-1,2-disubstituted 3,4-pentadien-1-ols. 61
19580266 2009
22
History of benign breast disease and risk of breast cancer among women in China: a case-control study. 61
18347922 2008
23
Enzymatic characterization of peroxisomal and cytosolic betaine aldehyde dehydrogenases in barley. 61
18429940 2008
24
Learning in and from brain-based devices. 61
18006739 2007
25
[Biliary stent placement for postoperative benign bile duct stenosis: personal experience]. 61
16910355 2006
26
Asymmetric allyl- and crotylboration with the robust, versatile, and recyclable 10-TMS-9-borabicyclo[3.3.2]decanes. 61
15926828 2005
27
Brain-based devices for the study of nervous systems and the development of intelligent machines. 61
15811220 2005
28
Reliability and validity of the brief behavioral distress scale: a measure of children's distress during invasive medical procedures. 61
11700336 2001
29
The ultraflex diamond stent for benign biliary obstruction. 61
10390334 1999
30
Plastic and metal stents for postoperative benign bile duct strictures: the best and the worst. 61
9468417 1998
31
Improved cytosolic free calcium mobilization and superoxide production in bicarbonate-based peritoneal dialysis solution. 61
9175052 1997
32
From sticky stuff to sweet receptors--achievements, limits and novel approaches to bioadhesion. 61
8839687 1996
33
Bicarbonate-based dialysis solution preserves granulocyte functions. 61
7827187 1994
34
A mathematical model for analyzing beat-to-beat difference in the human fetal heart rate during gestation and labor. 61
3346088 1988

Variations for Bent Bone Dysplasia Syndrome

ClinVar genetic disease variations for Bent Bone Dysplasia Syndrome:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR2 NM_022970.3(FGFR2):c.1087+1304G>ASNV Pathogenic 13263 rs121918487 10:123276892-123276892 10:121517378-121517378
2 FGFR2 NM_022970.3(FGFR2):c.1087+1311G>ASNV Pathogenic 13268 rs121918491 10:123276885-123276885 10:121517371-121517371
3 FGFR2 NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp)SNV Pathogenic 13272 rs79184941 10:123279677-123279677 10:121520163-121520163
4 FGFR2 NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg)SNV Pathogenic 13273 rs77543610 10:123279674-123279674 10:121520160-121520160
5 FGFR2 NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys)SNV Pathogenic 13277 rs121913478 10:123274794-123274794 10:121515280-121515280
6 FGFR2 NM_022970.3(FGFR2):c.1175T>G (p.Met392Arg)SNV Pathogenic 29855 rs387906677 10:123274746-123274746 10:121515232-121515232
7 FGFR2 NM_022970.3(FGFR2):c.1144T>G (p.Tyr382Asp)SNV Pathogenic 29856 rs387906678 10:123274777-123274777 10:121515263-121515263
8 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys)SNV Pathogenic 449024 rs1434545235 10:123325014-123325014 10:121565500-121565500
9 FGFR2 NM_022970.3(FGFR2):c.1153G>A (p.Gly385Arg)SNV Pathogenic 478046 rs1554927408 10:123274768-123274768 10:121515254-121515254
10 FGFR2 NM_022970.3(FGFR2):c.1087+1292G>ASNV Pathogenic/Likely pathogenic 374817 rs1057519044 10:123276904-123276904 10:121517390-121517390
11 FGFR2 NM_022970.3(FGFR2):c.1087+1268G>ASNV Uncertain significance 577711 rs199757302 10:123276928-123276928 10:121517414-121517414

UniProtKB/Swiss-Prot genetic disease variations for Bent Bone Dysplasia Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Tyr381Asp VAR_067977 rs387906678
2 FGFR2 p.Met391Arg VAR_067978 rs387906677

Expression for Bent Bone Dysplasia Syndrome

Search GEO for disease gene expression data for Bent Bone Dysplasia Syndrome.

Pathways for Bent Bone Dysplasia Syndrome

Pathways related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 FGFR2 ERBB2
2 12.27 FGFR2 ERBB2
3 12.18 FGFR2 ERBB2
4
Show member pathways
12.16 FGFR2 ERBB2
5
Show member pathways
12.12 FGFR2 ERBB2
6
Show member pathways
12.05 FGFR2 ERBB2
7
Show member pathways
11.99 FGFR2 ERBB2
8
Show member pathways
11.82 FGFR2 ERBB2
9
Show member pathways
11.79 FGFR2 ERBB2
10
Show member pathways
11.68 FGFR2 ERBB2
11
Show member pathways
11.55 FGFR2 ERBB2
12 11.33 FGFR2 ERBB2
13 11.09 FGFR2 ERBB2
14 10.79 FGFR2 ERBB2
15 10.28 FGFR2 ERBB2

GO Terms for Bent Bone Dysplasia Syndrome

Cellular components related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 FGFR2 ERBB2

Biological processes related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.48 FGFR2 ERBB2
2 MAPK cascade GO:0000165 9.46 FGFR2 ERBB2
3 positive regulation of protein kinase B signaling GO:0051897 9.43 FGFR2 ERBB2
4 protein autophosphorylation GO:0046777 9.4 FGFR2 ERBB2
5 peptidyl-tyrosine phosphorylation GO:0018108 9.37 FGFR2 ERBB2
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.32 FGFR2 ERBB2
7 positive regulation of MAPK cascade GO:0043410 9.26 FGFR2 ERBB2
8 wound healing GO:0042060 9.16 FGFR2 ERBB2
9 positive regulation of epithelial cell proliferation GO:0050679 8.96 FGFR2 ERBB2
10 regulation of ERK1 and ERK2 cascade GO:0070372 8.62 FGFR2 ERBB2

Molecular functions related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.16 FGFR2 ERBB2
2 protein tyrosine kinase activity GO:0004713 8.96 FGFR2 ERBB2
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.62 FGFR2 ERBB2

Sources for Bent Bone Dysplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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