MCID: BMR001
MIFTS: 41

Boomerang Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Boomerang Dysplasia

MalaCards integrated aliases for Boomerang Dysplasia:

Name: Boomerang Dysplasia 54 12 50 24 25 71 29 13 52 14 69
Dwarfism with Short, Bowed, Rigid Limbs and Characteristic Facies 50
Boomerang-Like Skeletal Dysplasia 50
Piepkorn Dysplasia 25
Boomd 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
boomerang dysplasia:
Mortality/Aging neonatal death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Boomerang Dysplasia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1263disease definitionboomerang 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.epidemiologythe prevalence of bd is unknown.clinical descriptionaffected 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.etiologybd 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 methodsdiagnosis 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 diagnosiscomprises 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 diagnosisthe 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.prognosisprognosis is poor, as the condition is lethal in utero.visit the orphanet disease page for more resources. last updated: 7/1/2013

MalaCards based summary : Boomerang Dysplasia, also known as dwarfism with short, bowed, rigid limbs and characteristic facies, is related to otopalatodigital syndrome, type ii and atelosteogenesis, type i, and has symptoms including polyhydramnios, cryptorchidism and narrow chest. An important gene associated with Boomerang Dysplasia is FLNB (Filamin B), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Cytoskeletal Signaling. Affiliated tissues include bone, testes and lung, and related phenotype is craniofacial.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 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.

Wikipedia : 72 Dwarfism with short, bowed, rigid limbs and characteristic... more...

Description from OMIM: 112310

Related Diseases for Boomerang Dysplasia

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



Diseases related to Boomerang Dysplasia

Symptoms & Phenotypes for Boomerang Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Nose:
broad nasal root
hypoplastic nares and septum

Limbs:
short, bowed, rigid limbs

Radiology:
absent radii and fibulae with boomerang shaped remaining long bones
small iliac bodies
retarded ossification of lower spine and digits

Growth:
congential dwarfism

Misc:
neonatal death


Clinical features from OMIM:

112310

Human phenotypes related to Boomerang Dysplasia:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 polyhydramnios 32 frequent (33%) HP:0001561
2 cryptorchidism 32 frequent (33%) HP:0000028
3 narrow chest 32 hallmark (90%) HP:0000774
4 omphalocele 32 frequent (33%) HP:0001539
5 wide nasal bridge 32 HP:0000431
6 finger syndactyly 32 frequent (33%) HP:0006101
7 growth hormone deficiency 32 hallmark (90%) HP:0000824
8 micromelia 32 hallmark (90%) HP:0002983
9 hydrops fetalis 32 frequent (33%) HP:0001789
10 fibular aplasia 32 HP:0002990
11 absent radius 32 HP:0003974
12 hypoplastic nasal septum 32 HP:0005104
13 severe short-limb dwarfism 32 hallmark (90%) HP:0008890
14 abnormality of the ulna 32 occasional (7.5%) HP:0002997
15 aplasia/hypoplasia of the abdominal wall musculature 32 frequent (33%) HP:0010318
16 underdeveloped nasal alae 32 HP:0000430
17 abnormality of the metacarpal bones 32 frequent (33%) HP:0001163
18 severe short stature 32 HP:0003510
19 aplasia/hypoplasia of the lungs 32 frequent (33%) HP:0006703
20 abnormality of the humerus 32 frequent (33%) HP:0003063
21 abnormality of the radius 32 frequent (33%) HP:0002818
22 aplasia/hypoplasia of the fibula 32 hallmark (90%) HP:0006492
23 hypoplastic iliac body 32 HP:0008824
24 abnormality of femur morphology 32 frequent (33%) HP:0002823
25 abnormality of tibia morphology 32 hallmark (90%) HP:0002992
26 poorly ossified vertebrae 32 hallmark (90%) HP:0100856

MGI Mouse Phenotypes related to Boomerang Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 DNM2 FLNA FLNB SLC26A2

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:

id Genetic test Affiliating Genes
1 Boomerang Dysplasia 29 24 FLNB

Anatomical Context for Boomerang Dysplasia

MalaCards organs/tissues related to Boomerang Dysplasia:

39
Bone, Testes, Lung

Publications for Boomerang Dysplasia

Articles related to Boomerang Dysplasia:

id Title Authors Year
1
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging. ( 22354125 )
2012
2
Mutations in FLNB cause boomerang dysplasia. ( 15994868 )
2005
3
Prenatal diagnosis of boomerang dysplasia. ( 12955767 )
2003
4
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia. ( 10227404 )
1999
5
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. ( 9409862 )
1997
6
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. ( 8291529 )
1993
7
Atelosteogenesis I and boomerang dysplasia: a question of nosology. ( 1863996 )
1991
8
Boomerang dysplasia. ( 2202214 )
1990
9
Boomerang dysplasia. ( 4063680 )
1985
10
Boomerang dysplasia. A new form of neonatal death dwarfism. ( 6403439 )
1983

Variations for Boomerang Dysplasia

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

71
id Symbol AA change Variation ID SNP ID
1 FLNB p.Leu171Arg VAR_033071 rs80356494
2 FLNB p.Ser235Pro VAR_033077 rs121908896

ClinVar genetic disease variations for Boomerang Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FLNB NM_001457.3(FLNB): c.512T> G (p.Leu171Arg) single nucleotide variant Pathogenic rs80356494 GRCh37 Chromosome 3, 58062992: 58062992
2 FLNB NM_001457.3(FLNB): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs121908896 GRCh37 Chromosome 3, 58067419: 58067419

Expression for Boomerang Dysplasia

Search GEO for disease gene expression data for Boomerang Dysplasia.

Pathways for Boomerang Dysplasia

GO Terms for Boomerang Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 ARPC1A DNM2 FLNA FLNB SERPINC1 SLC26A2
2 actin cytoskeleton GO:0015629 9.13 ARPC1A FLNA FLNB
3 focal adhesion GO:0005925 8.92 DNM2 FLNA FLNB ITGA2

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

id Name GO ID Score Top Affiliating Genes
1 establishment of protein localization GO:0045184 8.96 FLNA ITGA2
2 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 8.62 DNM2 FLNA

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

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.13 ARPC1A FLNA FLNB
2 protein complex binding GO:0032403 8.8 DNM2 FLNA ITGA2

Sources for Boomerang Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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