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MCID: DYS160
MIFTS: 25

Dyssegmental Dysplasia, Silverman-Handmaker Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Dyssegmental Dysplasia, Silverman-Handmaker Type

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MalaCards integrated aliases for Dyssegmental Dysplasia, Silverman-Handmaker Type:

Name: Dyssegmental Dysplasia, Silverman-Handmaker Type 57 59 13 55
Ddsh 57 53 75
Dyssegmental Dysplasia Silverman-Handmaker Type 53 75
Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type 57
Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type 53
Dysplasia, Dyssegmental, Silverman-Handmaker Type 40
Dyssegmental Dwarfism, Silverman-Handmaker Type 57
Silverman-Handmaker Type Dyssegmental Dysplasia 12
Dyssegmental Dwarfism Silverman-Handmaker Type 53

Characteristics:

Orphanet epidemiological data:

59
dyssegmental dysplasia, silverman-handmaker type
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
neonatal lethal


HPO:

32
dyssegmental dysplasia, silverman-handmaker type:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Dyssegmental Dysplasia, Silverman-Handmaker Type

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UniProtKB/Swiss-Prot : 75 Dyssegmental dysplasia Silverman-Handmaker type: The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage.

MalaCards based summary : Dyssegmental Dysplasia, Silverman-Handmaker Type, is also known as ddsh. An important gene associated with Dyssegmental Dysplasia, Silverman-Handmaker Type is HSPG2 (Heparan Sulfate Proteoglycan 2). Affiliated tissues include bone, and related phenotypes are inguinal hernia and cleft palate

Disease Ontology : 12 An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36.

Description from OMIM: 224410
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Related Diseases for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Symptoms & Phenotypes for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
wide nasal bridge

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Feet:
talipes equinovarus

Respiratory Lung:
pulmonary hypoplasia

Growth Other:
short-limbed dwarfism

Chest External Features:
small chest

Skeletal:
chondroosseous morphology notable for short, irregular chondrocyte columns, large, unfused calcospherites, perichondral bone overgrowth and patchy, mucoid degeneration of resting cartilage

Head And Neck Mouth:
micrognathia
small mouth

Head And Neck Face:
flat face

Skeletal Spine:
anisospondyly
dyssegmental dysplasia

Head And Neck Ears:
posteriorly rotated ears

Abdomen External Features:
two vessel cord

Head And Neck Head:
occipital skull defect

Skeletal Limbs:
short, bent long bones


Clinical features from OMIM:

224410

Human phenotypes related to Dyssegmental Dysplasia, Silverman-Handmaker Type:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
2 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
5 blue sclerae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000592
6 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
7 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
8 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
9 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
10 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
11 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
12 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644
13 anisospondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002879
14 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
15 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
16 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
17 cryptorchidism 32 HP:0000028
18 narrow mouth 32 HP:0000160
19 malar flattening 32 HP:0000272
20 posteriorly rotated ears 32 HP:0000358
21 wide nasal bridge 32 HP:0000431
22 calvarial skull defect 32 HP:0001362
23 overgrowth 32 HP:0001548
24 talipes equinovarus 32 HP:0001762
25 pulmonary hypoplasia 32 HP:0002089
26 short long bone 32 HP:0003026
27 abnormality of the abdominal wall 32 HP:0004298
28 thoracic hypoplasia 32 HP:0005257
29 flat face 32 HP:0012368
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Drugs & Therapeutics for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Search Clinical Trials , NIH Clinical Center for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Genetic Tests for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Anatomical Context for Dyssegmental Dysplasia, Silverman-Handmaker Type

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MalaCards organs/tissues related to Dyssegmental Dysplasia, Silverman-Handmaker Type:

41
Bone
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Publications for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Articles related to Dyssegmental Dysplasia, Silverman-Handmaker Type:

# Title Authors Year
1
Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy. ( 29526034 )
2018
2
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis. ( 23836246 )
2013
3
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type. ( 20542149 )
2010
4
Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development. ( 11891676 )
2001
5
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. ( 11279527 )
2001
6
Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history. ( 9450878 )
1998
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Variations for Dyssegmental Dysplasia, Silverman-Handmaker Type

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ClinVar genetic disease variations for Dyssegmental Dysplasia, Silverman-Handmaker Type:

6
(show top 50) (show all 539)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPG2 HSPG2, 89-BP DUP, EX34 duplication Pathogenic
2 HSPG2 HSPG2, 7086G-A, +5 single nucleotide variant Pathogenic
3 HSPG2 HSPG2, 10328C-T single nucleotide variant Pathogenic
4 HSPG2 NM_005529.6(HSPG2): c.1082C> A (p.Thr361Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs75467696 GRCh37 Chromosome 1, 22211941: 22211941
5 HSPG2 NM_005529.6(HSPG2): c.1082C> A (p.Thr361Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs75467696 GRCh38 Chromosome 1, 21885448: 21885448
6 HSPG2 NM_005529.6(HSPG2): c.1998+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377228309 GRCh37 Chromosome 1, 22207140: 22207140
7 HSPG2 NM_005529.6(HSPG2): c.1998+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377228309 GRCh38 Chromosome 1, 21880647: 21880647
8 HSPG2 NM_005529.6(HSPG2): c.2074G> A (p.Val692Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143669458 GRCh37 Chromosome 1, 22206977: 22206977
9 HSPG2 NM_005529.6(HSPG2): c.2074G> A (p.Val692Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143669458 GRCh38 Chromosome 1, 21880484: 21880484
10 HSPG2 NM_005529.6(HSPG2): c.3269G> A (p.Arg1090Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78889849 GRCh37 Chromosome 1, 22202155: 22202155
11 HSPG2 NM_005529.6(HSPG2): c.3269G> A (p.Arg1090Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78889849 GRCh38 Chromosome 1, 21875662: 21875662
12 HSPG2 NM_005529.6(HSPG2): c.3336C> T (p.Pro1112=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228348 GRCh37 Chromosome 1, 22201462: 22201462
13 HSPG2 NM_005529.6(HSPG2): c.3336C> T (p.Pro1112=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228348 GRCh38 Chromosome 1, 21874969: 21874969
14 HSPG2 NM_005529.6(HSPG2): c.4627-3delT deletion Conflicting interpretations of pathogenicity rs368983547 GRCh37 Chromosome 1, 22190709: 22190709
15 HSPG2 NM_005529.6(HSPG2): c.4627-3delT deletion Conflicting interpretations of pathogenicity rs368983547 GRCh38 Chromosome 1, 21864216: 21864216
16 HSPG2 NM_005529.6(HSPG2): c.5755C> T (p.Arg1919Cys) single nucleotide variant Benign/Likely benign rs2229474 GRCh37 Chromosome 1, 22182115: 22182115
17 HSPG2 NM_005529.6(HSPG2): c.5755C> T (p.Arg1919Cys) single nucleotide variant Benign/Likely benign rs2229474 GRCh38 Chromosome 1, 21855622: 21855622
18 HSPG2 NM_005529.6(HSPG2): c.5702-5G> A single nucleotide variant Benign rs2290498 GRCh37 Chromosome 1, 22182173: 22182173
19 HSPG2 NM_005529.6(HSPG2): c.5702-5G> A single nucleotide variant Benign rs2290498 GRCh38 Chromosome 1, 21855680: 21855680
20 HSPG2 NM_005529.6(HSPG2): c.7438C> T (p.Arg2480Trp) single nucleotide variant Uncertain significance rs143437991 GRCh37 Chromosome 1, 22176542: 22176542
21 HSPG2 NM_005529.6(HSPG2): c.7438C> T (p.Arg2480Trp) single nucleotide variant Uncertain significance rs143437991 GRCh38 Chromosome 1, 21850049: 21850049
22 HSPG2 NM_005529.6(HSPG2): c.10937G> A (p.Arg3646His) single nucleotide variant Conflicting interpretations of pathogenicity rs112062179 GRCh37 Chromosome 1, 22160001: 22160001
23 HSPG2 NM_005529.6(HSPG2): c.10937G> A (p.Arg3646His) single nucleotide variant Conflicting interpretations of pathogenicity rs112062179 GRCh38 Chromosome 1, 21833508: 21833508
24 HSPG2 NM_005529.6(HSPG2): c.11475C> T (p.Ile3825=) single nucleotide variant Uncertain significance rs111866498 GRCh37 Chromosome 1, 22157795: 22157795
25 HSPG2 NM_005529.6(HSPG2): c.11475C> T (p.Ile3825=) single nucleotide variant Uncertain significance rs111866498 GRCh38 Chromosome 1, 21831302: 21831302
26 HSPG2 NM_005529.6(HSPG2): c.4233C> T (p.Tyr1411=) single nucleotide variant Conflicting interpretations of pathogenicity rs745452577 GRCh37 Chromosome 1, 22192291: 22192291
27 HSPG2 NM_005529.6(HSPG2): c.4233C> T (p.Tyr1411=) single nucleotide variant Conflicting interpretations of pathogenicity rs745452577 GRCh38 Chromosome 1, 21865798: 21865798
28 HSPG2 NM_005529.6(HSPG2): c.2869A> C (p.Asn957His) single nucleotide variant Benign/Likely benign rs62618730 GRCh38 Chromosome 1, 21876363: 21876363
29 HSPG2 NM_005529.6(HSPG2): c.2869A> C (p.Asn957His) single nucleotide variant Benign/Likely benign rs62618730 GRCh37 Chromosome 1, 22202856: 22202856
30 HSPG2 NM_005529.6(HSPG2): c.12982G> A (p.Ala4328Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs114015043 GRCh37 Chromosome 1, 22150130: 22150130
31 HSPG2 NM_005529.6(HSPG2): c.12982G> A (p.Ala4328Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs114015043 GRCh38 Chromosome 1, 21823637: 21823637
32 HSPG2 NM_005529.6(HSPG2): c.10894C> T (p.Arg3632Ter) single nucleotide variant Pathogenic rs762281715 GRCh37 Chromosome 1, 22160044: 22160044
33 HSPG2 NM_005529.6(HSPG2): c.10894C> T (p.Arg3632Ter) single nucleotide variant Pathogenic rs762281715 GRCh38 Chromosome 1, 21833551: 21833551
34 HSPG2 NM_005529.6(HSPG2): c.8961C> T (p.Gly2987=) single nucleotide variant Uncertain significance rs369899077 GRCh37 Chromosome 1, 22168823: 22168823
35 HSPG2 NM_005529.6(HSPG2): c.8961C> T (p.Gly2987=) single nucleotide variant Uncertain significance rs369899077 GRCh38 Chromosome 1, 21842330: 21842330
36 HSPG2 NM_005529.6(HSPG2): c.5648C> T (p.Ala1883Val) single nucleotide variant Uncertain significance rs140954748 GRCh37 Chromosome 1, 22182333: 22182333
37 HSPG2 NM_005529.6(HSPG2): c.5648C> T (p.Ala1883Val) single nucleotide variant Uncertain significance rs140954748 GRCh38 Chromosome 1, 21855840: 21855840
38 HSPG2 NM_005529.6(HSPG2): c.8397T> G (p.Ser2799=) single nucleotide variant Uncertain significance rs186657949 GRCh37 Chromosome 1, 22172668: 22172668
39 HSPG2 NM_005529.6(HSPG2): c.8397T> G (p.Ser2799=) single nucleotide variant Uncertain significance rs186657949 GRCh38 Chromosome 1, 21846175: 21846175
40 HSPG2 NM_005529.6(HSPG2): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs41311989 GRCh37 Chromosome 1, 22188328: 22188328
41 HSPG2 NM_005529.6(HSPG2): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs41311989 GRCh38 Chromosome 1, 21861835: 21861835
42 HSPG2 NM_005529.6(HSPG2): c.8605G> C (p.Ala2869Pro) single nucleotide variant Uncertain significance rs139838884 GRCh37 Chromosome 1, 22170652: 22170652
43 HSPG2 NM_005529.6(HSPG2): c.8605G> C (p.Ala2869Pro) single nucleotide variant Uncertain significance rs139838884 GRCh38 Chromosome 1, 21844159: 21844159
44 HSPG2 NM_005529.6(HSPG2): c.7826G> A (p.Arg2609Gln) single nucleotide variant Uncertain significance rs147286334 GRCh37 Chromosome 1, 22174498: 22174498
45 HSPG2 NM_005529.6(HSPG2): c.7826G> A (p.Arg2609Gln) single nucleotide variant Uncertain significance rs147286334 GRCh38 Chromosome 1, 21848005: 21848005
46 HSPG2 NM_005529.6(HSPG2): c.6541G> A (p.Ala2181Thr) single nucleotide variant Uncertain significance rs143109401 GRCh37 Chromosome 1, 22179462: 22179462
47 HSPG2 NM_005529.6(HSPG2): c.6541G> A (p.Ala2181Thr) single nucleotide variant Uncertain significance rs143109401 GRCh38 Chromosome 1, 21852969: 21852969
48 HSPG2 NM_005529.6(HSPG2): c.6402G> A (p.Val2134=) single nucleotide variant Benign/Likely benign rs12742444 GRCh37 Chromosome 1, 22180723: 22180723
49 HSPG2 NM_005529.6(HSPG2): c.6402G> A (p.Val2134=) single nucleotide variant Benign/Likely benign rs12742444 GRCh38 Chromosome 1, 21854230: 21854230
50 HSPG2 NM_005529.6(HSPG2): c.3897G> A (p.Val1299=) single nucleotide variant Benign rs2229482 GRCh37 Chromosome 1, 22199245: 22199245
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Expression for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Search GEO for disease gene expression data for Dyssegmental Dysplasia, Silverman-Handmaker Type.
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Pathways for Dyssegmental Dysplasia, Silverman-Handmaker Type

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GO Terms for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Sources for Dyssegmental Dysplasia, Silverman-Handmaker Type

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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