BOOMD
MCID: BMR001
MIFTS: 40

Boomerang Dysplasia (BOOMD)

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

Aliases & Classifications for Boomerang Dysplasia

MalaCards integrated aliases for Boomerang Dysplasia:

Name: Boomerang Dysplasia 57 12 73 20 43 58 72 36 29 13 54 6 15 70
Boomd 57 72
Dwarfism with Short, Bowed, Rigid Limbs and Characteristic Facies 20
Boomerang-Like Skeletal Dysplasia 20
Dysplasia, Boomerang 39
Piepkorn Dysplasia 43

Characteristics:

Orphanet epidemiological data:

58
boomerang dysplasia
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: stillbirth;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
neonatal death

Inheritance:
autosomal dominant


HPO:

31
boomerang dysplasia:
Onset and clinical course neonatal death
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050680
OMIM® 57 112310
KEGG 36 H02067
MeSH 44 D010009
MESH via Orphanet 45 C536573
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 71 C0432201
Orphanet 58 ORPHA1263
MedGen 41 C0432201
UMLS 70 C0432201

Summaries for Boomerang Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1263 Definition Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. Epidemiology The prevalence of BD is unknown. Clinical description Affected neonates are stillborn or die rapidly after birth and present clinically with severe short-limbed dwarfism, dislocated hip, knee and elbow joints, club feet and proviso born alive have severe cardio respiratory failure. Facial dysmorphism includes midface hypoplasia and cleft palate. Boomerang dysplasia clinically differs from AOI and AOIII because of the boomerang shaped bowing of the femur and occasionally observed encephalocele and omphalocele. Etiology BD results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, normally expected to translate full length but biochemically abnormal filamin B protein. Diagnostic methods Diagnosis can be confirmed from skeletal radiographs, chondro-osseous histopathology and genetic testing. Distinctive radiographic findings are similar to AOI but, BD presents with a more severe deficiency in mineralization, with non-ossification of certain segments of limbs and vertebrates, and a boomerang-like shape of some long tubular bones. Differential diagnosis Comprises other skeletal dysplasias with severe short-limbed dwarfism such as achondrogenesis, campomelic dysplasia, Ellis-van Creveld syndrome, achondroplasia, metatropic dysplasia, Roberts syndrome, short rib- polydactyly syndrome and thanatophoric dysplasia. Additional differential diagnosis includes diseases associated with impaired ossification such achondrogenesis, hypophosphatasia, and osteogenesis imperfecta (see these terms). Antenatal diagnosis The prenatal diagnosis of BD is difficult to ascertain by ultrasound. Ultrasound shows thoracic hypoplasia, limb shortening, delayed ossification of spine and appendicular segments and possibly joint dislocations, similar to AOI and AOIII. Boomerang-shape morphology some long tubular bones may be diagnosed prenatally by 3D- CT scan. Prognosis Prognosis is poor, as the condition is lethal in utero.

MalaCards based summary : Boomerang Dysplasia, also known as boomd, is related to larsen syndrome and atelosteogenesis. An important gene associated with Boomerang Dysplasia is FLNB (Filamin B), and among its related pathways/superpathways are MAPK signaling pathway and Focal adhesion. Affiliated tissues include bone, and related phenotypes are abnormality of tibia morphology and narrow chest

Disease Ontology : 12 An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has material basis in heterozygous mutation in the FLNB gene on chromosome 3p14.

MedlinePlus Genetics : 43 Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.Some individuals with boomerang dysplasia have a sac-like protrusion of the brain (encephalocele). They may also have an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Affected individuals typically have a distinctive nose that is broad with very small nostrils and an underdeveloped partition between the nostrils (septum).Individuals with boomerang dysplasia typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.

OMIM® : 57 Bommerang dysplasia is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae (summary by Bicknell et al., 2005). (112310) (Updated 20-May-2021)

KEGG : 36 Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang like aspect of the long tubular bones. BD is caused by mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.

UniProtKB/Swiss-Prot : 72 Boomerang dysplasia: A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments.

Wikipedia : 73 Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital... more...

Related Diseases for Boomerang Dysplasia

Diseases related to Boomerang Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 larsen syndrome 30.3 SLC35D1 FLNC FLNB FLNA CHST3 B4GALT7
2 atelosteogenesis 30.2 SLC35D1 FLNC FLNB FLNA
3 otopalatodigital syndrome, type ii 29.9 FLNC FLNB FLNA
4 melnick-needles syndrome 29.9 FLNC FLNB FLNA
5 osteochondrodysplasia 28.1 SLC35D1 P3H1 FLNC FLNB FLNA CRTAP
6 atelosteogenesis, type i 11.1
7 dwarfism 10.2
8 otopalatodigital syndrome, type i 10.2 FLNB FLNA
9 microphthalmia 10.1
10 cleft lip 10.1
11 cleft lip/palate 10.1
12 flnb disorders 10.1
13 otopalatodigital syndrome spectrum disorder 10.0 FLNC FLNB FLNA
14 frontometaphyseal dysplasia 10.0 FLNC FLNB FLNA
15 myopathy, myofibrillar, 5 10.0 FLNC FLNB FLNA
16 fibrogenesis imperfecta ossium 10.0 P3H1 CRTAP
17 osteogenesis imperfecta, type vii 9.9 P3H1 CRTAP
18 osteogenesis imperfecta, type viii 9.9 P3H1 CRTAP
19 atelosteogenesis, type iii 9.9
20 hypertelorism 9.9
21 omphalocele 9.9
22 myofibrillar myopathy 9.9 FLNC FLNB FLNA
23 periventricular nodular heterotopia 9.9 FLNC FLNB FLNA
24 bruck syndrome 9.9 P3H1 CRTAP
25 osteogenesis imperfecta, type ii 9.8 P3H1 CRTAP
26 osteogenesis imperfecta, type iv 9.8 P3H1 CRTAP
27 bone development disease 9.8 P3H1 FLNB CRTAP
28 larsen-like syndrome b3gat3 type 9.8 CHST3 B4GALT7
29 desbuquois dysplasia 9.8 CHST3 B4GALT7
30 bone disease 9.8 FLNB FLNA CRTAP
31 dentinogenesis imperfecta 9.7 P3H1 CRTAP
32 brittle bone disorder 9.7 P3H1 CRTAP B4GALT7
33 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7 FLNB CHST3 B4GALT7
34 osteogenesis imperfecta, type iii 9.6 P3H1 CRTAP
35 mucopolysaccharidosis iv 9.5 P3H1 CRTAP CHST3
36 spondylocarpotarsal synostosis syndrome 9.4 SLC35D1 P3H1 FLNB FLNA CRTAP

Graphical network of the top 20 diseases related to Boomerang Dysplasia:



Diseases related to Boomerang Dysplasia

Symptoms & Phenotypes for Boomerang Dysplasia

Human phenotypes related to Boomerang Dysplasia:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of tibia morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002992
2 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
3 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
4 severe short-limb dwarfism 58 31 hallmark (90%) Very frequent (99-80%) HP:0008890
5 aplasia/hypoplasia of the fibula 58 31 hallmark (90%) Very frequent (99-80%) HP:0006492
6 poorly ossified vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0100856
7 decreased response to growth hormone stimuation test 31 hallmark (90%) HP:0000824
8 aplasia/hypoplasia of the abdominal wall musculature 58 31 frequent (33%) Frequent (79-30%) HP:0010318
9 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
10 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
11 abnormality of femur morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002823
12 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
13 aplasia/hypoplasia of the lungs 58 31 frequent (33%) Frequent (79-30%) HP:0006703
14 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
15 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
16 omphalocele 58 31 frequent (33%) Frequent (79-30%) HP:0001539
17 abnormality of the humerus 58 31 frequent (33%) Frequent (79-30%) HP:0003063
18 abnormality of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0002818
19 abnormality of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002997
20 wide nasal bridge 31 HP:0000431
21 abnormally ossified vertebrae 58 Very frequent (99-80%)
22 underdeveloped nasal alae 31 HP:0000430
23 severe short stature 31 HP:0003510
24 fibular aplasia 31 HP:0002990
25 absent radius 31 HP:0003974
26 growth hormone deficiency 58 Very frequent (99-80%)
27 abnormal bone ossification 58 Very frequent (99-80%)
28 hypoplastic nasal septum 31 HP:0005104
29 hypoplastic iliac body 31 HP:0008824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
broad nasal root
hypoplastic nares and septum

Skeletal:
retarded ossification of lower spine and digits

Skeletal Limbs:
short, bowed, rigid limbs
absent radii and fibulae with boomerang shaped remaining long bones

Growth Height:
dwarfism

Skeletal Pelvis:
small iliac bodies

Clinical features from OMIM®:

112310 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Boomerang Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.17 CHST3 CRTAP FLNA FLNB P3H1 SLC35D1

Drugs & Therapeutics for Boomerang Dysplasia

Search Clinical Trials , NIH Clinical Center for Boomerang Dysplasia

Genetic Tests for Boomerang Dysplasia

Genetic tests related to Boomerang Dysplasia:

# Genetic test Affiliating Genes
1 Boomerang Dysplasia 29 FLNB

Anatomical Context for Boomerang Dysplasia

MalaCards organs/tissues related to Boomerang Dysplasia:

40
Bone

Publications for Boomerang Dysplasia

Articles related to Boomerang Dysplasia:

(show all 27)
# Title Authors PMID Year
1
Prenatal diagnosis of boomerang dysplasia. 57 6 61
12955767 2003
2
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 57 6
14991055 2004
3
Filamin B mutations cause chondrocyte defects in skeletal development. 6 54 61
17510210 2007
4
Mutations in FLNB cause boomerang dysplasia. 61 57
15994868 2005
5
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia. 57 61
10227404 1999
6
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. 61 57
9024569 1997
7
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. 61 57
8291529 1993
8
Atelosteogenesis I and boomerang dysplasia: a question of nosology. 57 61
1863996 1991
9
Boomerang dysplasia. 61 57
2202214 1990
10
Boomerang dysplasia. 57 61
4063680 1985
11
New forms of neonatal death dwarfism. Report of 3 cases. 57
7194471 1981
12
Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. 54 61
17360453 2007
13
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach. 61
33255942 2020
14
Fetal magnetic resonance imaging of skeletal dysplasias. 61
31776601 2020
15
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. 61
29797497 2018
16
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. 61
29566257 2018
17
Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings. 61
29887954 2018
18
Filamin B: The next hotspot in skeletal research? 61
28739045 2017
19
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging. 61
22354125 2012
20
[Skeletal dysplasia, boomerang dysplasia]. 61
11528947 2001
21
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 61
10706363 2000
22
A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome. 61
10406666 1999
23
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. 61
9779808 1998
24
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. 61
9409862 1997
25
Atelosteogenesis syndromes: a review, with comments on their pathogenesis. 61
9133349 1997
26
Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"? 61
1466560 1992
27
Boomerang dysplasia. A new form of neonatal death dwarfism. 61
6403439 1983

Variations for Boomerang Dysplasia

ClinVar genetic disease variations for Boomerang Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNB NM_001457.4(FLNB):c.512T>G (p.Leu171Arg) SNV Pathogenic 6403 rs80356494 GRCh37: 3:58062992-58062992
GRCh38: 3:58077265-58077265
2 FLNB NM_001457.4(FLNB):c.703T>C (p.Ser235Pro) SNV Pathogenic 6404 rs121908896 GRCh37: 3:58067419-58067419
GRCh38: 3:58081692-58081692
3 FLNB NM_001457.4(FLNB):c.199C>T (p.His67Tyr) SNV Uncertain significance 587608 rs751371914 GRCh37: 3:57994490-57994490
GRCh38: 3:58008763-58008763
4 FLNB NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala) SNV Uncertain significance 289425 rs886044175 GRCh37: 3:58118535-58118535
GRCh38: 3:58132808-58132808
5 FLNB NM_001457.4(FLNB):c.808A>G (p.Met270Val) SNV Uncertain significance 252548 rs145036794 GRCh37: 3:58080583-58080583
GRCh38: 3:58094856-58094856

UniProtKB/Swiss-Prot genetic disease variations for Boomerang Dysplasia:

72
# Symbol AA change Variation ID SNP ID
1 FLNB p.Leu171Arg VAR_033071 rs80356494
2 FLNB p.Ser235Pro VAR_033077 rs121908896

Expression for Boomerang Dysplasia

Search GEO for disease gene expression data for Boomerang Dysplasia.

Pathways for Boomerang Dysplasia

Pathways related to Boomerang Dysplasia according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Focal adhesion hsa04510

Pathways related to Boomerang Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.16 FLNC FLNB FLNA
2
Show member pathways
12.08 FLNC FLNB FLNA
3 11.82 FLNC FLNB FLNA
4 11.44 FLNC FLNB FLNA
5 10.53 FLNC FLNB FLNA

GO Terms for Boomerang Dysplasia

Cellular components related to Boomerang Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.13 FLNC FLNB FLNA
2 Z disc GO:0030018 8.8 FLNC FLNB FLNA

Biological processes related to Boomerang Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.33 P3H1 FLNA CRTAP
2 chaperone-mediated protein folding GO:0061077 9.26 P3H1 CRTAP
3 cell junction assembly GO:0034329 8.96 FLNC FLNA
4 negative regulation of post-translational protein modification GO:1901874 8.62 P3H1 CRTAP

Molecular functions related to Boomerang Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.13 FLNC FLNB FLNA
2 collagen binding GO:0005518 8.62 P3H1 CRTAP

Sources for Boomerang Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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