BBDS1
MCID: BNT007
MIFTS: 34

Bent Bone Dysplasia Syndrome 1 (BBDS1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Bent Bone Dysplasia Syndrome 1

MalaCards integrated aliases for Bent Bone Dysplasia Syndrome 1:

Name: Bent Bone Dysplasia Syndrome 1 57
Bent Bone Dysplasia Syndrome 57 19 73 71
Fgfr2-Related Bent Bone Dysplasia 58 28 5
Bbds 57 73
Perinatal Lethal Bent Bone Dysplasia 58
Bent Bone Dysplasia -Fgfr2 Type 19
Dysplasia, Bent Bone Syndrome 38
Bbds1 57

Characteristics:


Inheritance:

Bent Bone Dysplasia Syndrome 1: Autosomal dominant 57
Fgfr2-Related Bent Bone Dysplasia: Autosomal dominant 58

Prevelance:

Fgfr2-Related Bent Bone Dysplasia: <1/1000000 (Worldwide) 58

Age Of Onset:

Fgfr2-Related Bent Bone Dysplasia: Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Bent Bone Dysplasia Syndrome 1

Orphanet: 58 FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.

MalaCards based summary: Bent Bone Dysplasia Syndrome 1, also known as bent bone dysplasia syndrome, is related to bent bone dysplasia syndrome 2 and craniosynostosis. An important gene associated with Bent Bone Dysplasia Syndrome 1 is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone, breast and brain, and related phenotypes are osteopenia and gingival overgrowth

GARD: 19 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 genetic changes in the FGFR2 gene.

UniProtKB/Swiss-Prot: 73 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.

OMIM®: 57 Bent bone dysplasia syndrome-1 (BBDS1) is 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 (Merrill et al., 2012). (614592) (Updated 08-Dec-2022)

Related Diseases for Bent Bone Dysplasia Syndrome 1

Diseases in the Bent Bone Dysplasia Syndrome 1 family:

Bent Bone Dysplasia Syndrome 2

Diseases related to Bent Bone Dysplasia Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bent bone dysplasia syndrome 2 11.0
2 craniosynostosis 10.4
3 osteochondrodysplasia 10.2
4 polyhydramnios 10.2
5 fgfr craniosynostosis syndromes 10.2
6 campomelic dysplasia and related disorders 10.2
7 bone disease 10.1

Graphical network of the top 20 diseases related to Bent Bone Dysplasia Syndrome 1:



Diseases related to Bent Bone Dysplasia Syndrome 1

Symptoms & Phenotypes for Bent Bone Dysplasia Syndrome 1

Human phenotypes related to Bent Bone Dysplasia Syndrome 1:

58 30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000938
2 gingival overgrowth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000212
3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
4 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
5 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
6 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
7 megalocornea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000485
8 midface retrusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011800
9 decreased calvarial ossification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005474
10 short clavicles 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000894
11 hypoplastic ischia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003175
12 hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001007
13 bell-shaped thorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001591
14 natal tooth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000695
15 coronal craniosynostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004440
16 congenital stationary night blindness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007642
17 extramedullary hematopoiesis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001978
18 overfolding of the superior helices 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004453
19 steep acetabular roof 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010455
20 metopic depression 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011223
21 incomplete ossification of pubis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030042
22 clitoral hypertrophy 30 Hallmark (90%) HP:0008665
23 abnormal periosteum morphology 30 Hallmark (90%) HP:0030313
24 hepatosplenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001433
25 bowing of the legs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002979
26 malar flattening 30 HP:0000272
27 clitoromegaly 58 Very frequent (99-80%)
28 abnormality of the lower limb 58 Occasional (29-5%)
29 abnormality of the outer ear 58 Very frequent (99-80%)
30 abnormally large globe 30 HP:0001090
31 abnormality of the periosteum 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
hypertelorism
megalophthalmos

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

Genitourinary External Genitalia Female:
clitoromegaly

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 Face:
micrognathia
midface hypoplasia

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

Skin Nails Hair Hair:
hirsutism

Skeletal Skull:
coronal craniosynostosis
diminished mineralization of the calvarium

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 (Updated 08-Dec-2022)

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome 1

Search Clinical Trials, NIH Clinical Center for Bent Bone Dysplasia Syndrome 1

Genetic Tests for Bent Bone Dysplasia Syndrome 1

Genetic tests related to Bent Bone Dysplasia Syndrome 1:

# Genetic test Affiliating Genes
1 Fgfr2-Related Bent Bone Dysplasia 28 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome 1

Organs/tissues related to Bent Bone Dysplasia Syndrome 1:

MalaCards : Bone, Breast, Brain, Heart

Publications for Bent Bone Dysplasia Syndrome 1

Articles related to Bent Bone Dysplasia Syndrome 1:

(show all 49)
# Title Authors PMID Year
1
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 62 57 5
22387015 2012
2
Temporal Trends in Brain-Death Organ Donation in Asia: Results From the Global Observatory on Donation and Transplantation. 62
35067376 2022
3
Mammographic features of benign breast lesions and risk of subsequent breast cancer in women attending breast cancer screening. 62
34156554 2022
4
Vimentin-Positive Circulating Tumor Cells as Diagnostic and Prognostic Biomarkers in Patients with Biliary Tract Cancer. 62
34640452 2021
5
A cross-comparison of biosurfactants as marine oil spill dispersants: Governing factors, synergetic effects and fates. 62
34492916 2021
6
A Comparative Study of Thermal Aging Effect on the Properties of Silicone-Based and Silicone-Free Thermal Gap Filler Materials. 62
34202198 2021
7
ToxChip PCR Arrays for Two Arctic-Breeding Seabirds: Applications for Regional Environmental Assessments. 62
33983718 2021
8
Characterization of Benign Breast Diseases and Association With Age, Hormonal Factors, and Family History of Breast Cancer Among Women in Sweden. 62
34170304 2021
9
CHILD-BRIGHT READYorNot Brain-Based Disabilities Trial: protocol of a randomised controlled trial (RCT) investigating the effectiveness of a patient-facing e-health intervention designed to enhance healthcare transition readiness in youth. 62
33771833 2021
10
Molecular Docking Studies and Biological Evaluation of Berberine-Benzothiazole Derivatives as an Anti-Influenza Agent via Blocking of Neuraminidase. 62
33673431 2021
11
A Study of Anxiety and Depression in Benign Breast Disease. 62
33767560 2020
12
The Role of Resolvin D1 in the Differential Diagnosis of the Cholangiocarcinoma and Benign Biliary Diseases. 62
32390401 2020
13
Awareness About Sharps Disposal Leads to Significant Improvement in Healthcare Safety: an Audit of Compliance in the National Health Service During the COVID-19 Pandemic. 62
33163860 2020
14
Fiberoptic Bronchoscopic Balloon Dilatation of Bronchial Stenosis in Children. 62
30829897 2019
15
Single brand, fully-covered, self-expandable metal stent for the treatment of benign biliary disease: when should stents be removed? 62
29856174 2019
16
Nuclear FGFR2 regulates musculoskeletal integration within the developing limb. 62
30620790 2019
17
Factors influencing disability in patients with chronic low back pain attending a tertiary hospital in sub-Saharan Africa. 62
30646894 2019
18
Blood-borne and sexually transmitted infections: a cross-sectional study in a Swiss prison. 62
30373535 2018
19
An efficient biomarker panel for diagnosis of breast cancer using surface-enhanced laser desorption ionization time-of-flight mass spectrometry. 62
29456844 2018
20
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. 62
28595297 2017
21
Biomarkers expression in benign breast diseases and risk of subsequent breast cancer: a case-control study. 62
28470951 2017
22
Continuous-Flow O-Alkylation of Biobased Derivatives with Dialkyl Carbonates in the Presence of Magnesium-Aluminium Hydrotalcites as Catalyst Precursors. 62
28140521 2017
23
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges. 62
27240702 2016
24
A new case of bent bone dysplasia--FGFR2 type and review of the literature. 62
26573129 2016
25
Cyclohexenylboration of Aldehydes and Ketones with the Borabicyclo[3.3.2]decanes (BBDs). 62
26284657 2015
26
Endoscopic treatment of nonstricture-related benign biliary diseases using covered self-expandable metal stents. 62
25521570 2015
27
Positive Association of Fibroadenomatoid Change with HER2-Negative Invasive Breast Cancer: A Co-Occurrence Study. 62
26098961 2015
28
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. 62
24908667 2014
29
(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. 62
25003976 2014
30
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. 62
24793055 2014
31
[Effects of mechanical transplanting of rice with controlled release bulk blending fertilizer on rice yield and soil fertility]. 62
24984497 2014
32
The postnatal features of bent bone dysplasia-FGFR2 type. 62
24300289 2014
33
Breast-feeding and benign breast disease. 62
22185539 2012
34
Benign breast lesions in an African population: A 25-year histopathological review of 1864 cases. 62
22529500 2011
35
Optimisation of ultra-performance LC conditions using response surface methodology for rapid separation and quantitative determination of phenolic compounds in Artemisia minor. 62
21140416 2010
36
(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. 62
19580266 2009
37
History of benign breast disease and risk of breast cancer among women in China: a case-control study. 62
18347922 2008
38
Enzymatic characterization of peroxisomal and cytosolic betaine aldehyde dehydrogenases in barley. 62
18429940 2008
39
Learning in and from brain-based devices. 62
18006739 2007
40
[Biliary stent placement for postoperative benign bile duct stenosis: personal experience]. 62
16910355 2006
41
Asymmetric allyl- and crotylboration with the robust, versatile, and recyclable 10-TMS-9-borabicyclo[3.3.2]decanes. 62
15926828 2005
42
Brain-based devices for the study of nervous systems and the development of intelligent machines. 62
15811220 2005
43
Reliability and validity of the brief behavioral distress scale: a measure of children's distress during invasive medical procedures. 62
11700336 2001
44
The ultraflex diamond stent for benign biliary obstruction. 62
10390334 1999
45
Plastic and metal stents for postoperative benign bile duct strictures: the best and the worst. 62
9468417 1998
46
Improved cytosolic free calcium mobilization and superoxide production in bicarbonate-based peritoneal dialysis solution. 62
9175052 1997
47
From sticky stuff to sweet receptors--achievements, limits and novel approaches to bioadhesion. 62
8839687 1996
48
Bicarbonate-based dialysis solution preserves granulocyte functions. 62
7827187 1994
49
A mathematical model for analyzing beat-to-beat difference in the human fetal heart rate during gestation and labor. 62
3346088 1988

Variations for Bent Bone Dysplasia Syndrome 1

ClinVar genetic disease variations for Bent Bone Dysplasia Syndrome 1:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR2 NM_000141.5(FGFR2):c.1172T>G (p.Met391Arg) SNV Pathogenic
29855 rs387906677 GRCh37: 10:123274746-123274746
GRCh38: 10:121515232-121515232
2 FGFR2 NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp) SNV Pathogenic
29856 rs387906678 GRCh37: 10:123274777-123274777
GRCh38: 10:121515263-121515263
3 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic
478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
4 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic
13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
5 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic
13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
6 FGFR2 NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic
Likely Pathogenic
449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
7 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344_Gly345=) SNV Pathogenic
13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
8 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic
13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
9 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic
13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
10 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely Pathogenic
374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
11 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain Significance
577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414

UniProtKB/Swiss-Prot genetic disease variations for Bent Bone Dysplasia Syndrome 1:

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 1

Search GEO for disease gene expression data for Bent Bone Dysplasia Syndrome 1.

Pathways for Bent Bone Dysplasia Syndrome 1

GO Terms for Bent Bone Dysplasia Syndrome 1

Sources for Bent Bone Dysplasia Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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