MCID: BMR001
MIFTS: 39

Boomerang Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Boomerang Dysplasia

MalaCards integrated aliases for Boomerang Dysplasia:

Name: Boomerang Dysplasia 53 12 72 49 24 71 28 13 51 14 69
Dwarfism with Short, Bowed, Rigid Limbs and Characteristic Facies 49
Boomerang-Like Skeletal Dysplasia 49
Piepkorn Dysplasia 24
Boomd 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
boomerang dysplasia:
Mortality/Aging neonatal death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Boomerang Dysplasia

NIH Rare Diseases : 49 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 atelosteogenesis and atelosteogenesis, type i, and has symptoms including finger syndactyly, wide nasal bridge and abnormality of the ulna. An important gene associated with Boomerang Dysplasia is FLNB (Filamin B), and among its related pathways/superpathways are Focal Adhesion and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include bone, testes and lung.

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 : 24 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 Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital... 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:

53
Misc:
neonatal death

Growth:
congential dwarfism

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

Nose:
broad nasal root
hypoplastic nares and septum

Limbs:
short, bowed, rigid limbs


Clinical features from OMIM:

112310

Human phenotypes related to Boomerang Dysplasia:

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

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 28 FLNB

Anatomical Context for Boomerang Dysplasia

MalaCards organs/tissues related to Boomerang Dysplasia:

38
Bone, Testes, Lung

Publications for Boomerang Dysplasia

Articles related to Boomerang Dysplasia:

# 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
# 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
# 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.55 ARPC1A FLNA FLNB SERPINC1 SLC26A2
2 Z disc GO:0030018 9.26 FLNA FLNB
3 focal adhesion GO:0005925 9.13 FLNA FLNB ITGA2
4 actin cytoskeleton GO:0015629 8.8 ARPC1A FLNA FLNB

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

# Name GO ID Score Top Affiliating Genes
1 establishment of protein localization GO:0045184 8.62 FLNA ITGA2

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.8 ARPC1A FLNA FLNB

Sources for Boomerang Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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