DDRD
MCID: DYS179
MIFTS: 24

Dyssegmental Dysplasia, Rolland-Desbuquois Type (DDRD)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dyssegmental Dysplasia, Rolland-Desbuquois Type

MalaCards integrated aliases for Dyssegmental Dysplasia, Rolland-Desbuquois Type:

Name: Dyssegmental Dysplasia, Rolland-Desbuquois Type 56 58 71
Ddrd 56 52
Anisospondylic Camptomicromelic Dwarfism, Rolland-Desbuquois Type 56
Anisospondylic Camptomicromelic Dwarfism Rolland-Desbuquois Type 52
Dyssegmental Dwarfism, Rolland-Desbuquois Type 56
Dyssegmental Dysplasia Rolland-Desbuquois Type 52
Dyssegmental Dwarfism Rolland-Desbuquois Type 52
Dna Damage Response Deficiency 71

Characteristics:

Orphanet epidemiological data:

58
dyssegmental dysplasia, rolland-desbuquois type
Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
lethal in 40% of patients
see also dyssegmental dysplasia, silverman-handmaker type


HPO:

31
dyssegmental dysplasia, rolland-desbuquois type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 224400
MESH via Orphanet 44 C537999
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C0432209
Orphanet 58 ORPHA156731
MedGen 41 C0432209
UMLS 71 C0432209 C4050123

Summaries for Dyssegmental Dysplasia, Rolland-Desbuquois Type

OMIM : 56 The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. Handmaker et al. (1977) coined the term 'dyssegmental dysplasia' because of the marked differences in size and shape of the vertebral bodies (anisospondyly), which he attributed to errors in segmentation. Fasanelli et al. (1985) proposed that there are different forms of dyssegmental dwarfism, a lethal Silverman-Handmaker type (224410) and a less severe Rolland-Desbuquois type. The Rolland-Desbuquois form is lethal in about 40% of patients. Although many patients survive beyond the newborn period, all exhibit neonatal distress (summary by Hennekam et al., 2010). (224400)

MalaCards based summary : Dyssegmental Dysplasia, Rolland-Desbuquois Type, also known as ddrd, is related to autosomal recessive disease. The drugs Irinotecan and topoisomerase I inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone and breast, and related phenotypes are short neck and bowing of the long bones

Related Diseases for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Diseases related to Dyssegmental Dysplasia, Rolland-Desbuquois Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 10.6

Symptoms & Phenotypes for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Human phenotypes related to Dyssegmental Dysplasia, Rolland-Desbuquois Type:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 bowing of the long bones 31 HP:0006487
3 hydrocephalus 31 HP:0000238
4 cleft palate 31 HP:0000175
5 flat face 31 HP:0012368
6 micrognathia 31 HP:0000347
7 lens luxation 31 HP:0012019
8 glaucoma 31 HP:0000501
9 malar flattening 31 HP:0000272
10 adducted thumb 31 HP:0001181
11 narrow chest 31 HP:0000774
12 micromelia 31 HP:0002983
13 round face 31 HP:0000311
14 neonatal short-limb short stature 31 HP:0008921
15 midface retrusion 31 HP:0011800
16 limitation of joint mobility 31 HP:0001376
17 encephalocele 31 HP:0002084
18 severe short stature 31 HP:0003510
19 hirsutism 31 HP:0001007
20 broad long bones 31 HP:0005622
21 short long bone 31 HP:0003026
22 camptodactyly 31 HP:0012385
23 short ribs 31 HP:0000773
24 metaphyseal widening 31 HP:0003016
25 joint contracture of the hand 31 HP:0009473
26 shallow orbits 31 HP:0000586
27 equinovarus deformity 31 HP:0008110
28 narrow greater sciatic notch 31 HP:0003375
29 advanced ossification of carpal bones 31 HP:0004233

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Mouth:
cleft palate

Head And Neck Eyes:
glaucoma
shallow orbits
dislocated lens

Skin Nails Hair Hair:
hirsutism

Skeletal Limbs:
metaphyseal widening
short, broad, bowed long bones
microcamptomelia (camptomicromelia)
dumbbell femurs

Skeletal:
decreased joint mobility

Chest Ribs Sternum Clavicles And Scapulae:
short, flared ribs

Skeletal Pelvis:
wide flared ilia
small sacrosciatic notches

Neurologic Central Nervous System:
hydrocephalus
encephalocele (single case)

Head And Neck Face:
flat face
micrognathia
round face
midface hypoplasia

Chest External Features:
narrow chest

Skeletal Hands:
camptodactyly
adducted thumbs
accelerated carpal bone maturation
short, broad tubular bones

Skeletal Feet:
equinovarus deformity
short, broad tubular bones

Growth Height:
dwarfism, neonatal short-limbed

Skeletal Spine:
variable vertebral body size
prominent coronal clefting
sagittal clefting

Clinical features from OMIM:

224400

Drugs & Therapeutics for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Drugs for Dyssegmental Dysplasia, Rolland-Desbuquois Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
2 topoisomerase I inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Single-Arm Study of M6620 in Combination With Irinotecan in Patients With Progressive TP53 Mutant Gastric and Gastro-Esophageal Junction Cancer Not yet recruiting NCT03641313 Phase 2 Berzosertib;Irinotecan

Search NIH Clinical Center for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Genetic Tests for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Anatomical Context for Dyssegmental Dysplasia, Rolland-Desbuquois Type

MalaCards organs/tissues related to Dyssegmental Dysplasia, Rolland-Desbuquois Type:

40
Bone, Breast

Publications for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Articles related to Dyssegmental Dysplasia, Rolland-Desbuquois Type:

(show all 21)
# Title Authors PMID Year
1
Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history. 56
9450878 1998
2
Dyssegmental dysplasia with glaucoma. 56
8723085 1996
3
Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity. 56
3605216 1987
4
Dyssegmental dysplasia (report of two cases with a review of the literature). 56
4059934 1985
5
Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism. 56
6851229 1983
6
Dyssegmental dwarfism. A lethal anisospondylic camptomicromelic dwarfism. 56
645657 1978
7
Chondrodysplastic dwarfism, cleft palate and micrognathia in a neonate, a new syndrome? 56
954769 1976
8
A severe infantile micromelic chondrodysplasia which resembles Kniest disease. 56
989037 1976
9
[Condrodystrophic dwarfism and cleft palate in a newborn]. 56
5053187 1972
10
Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas. 61
30952131 2019
11
Activation of STING-Dependent Innate Immune Signaling By S-Phase-Specific DNA Damage in Breast Cancer. 61
27707838 2017
12
Simultaneous Determination of Octinoxate, Oxybenzone, and Octocrylene in a Sunscreen Formulation Using Validated Spectrophotometric and Chemometric Methods. 61
26525239 2015
13
Comparative proteomics reveals key proteins recruited at the nucleoid of Deinococcus after irradiation-induced DNA damage. 61
24307635 2013
14
DdrA, DdrD, and PprA: components of UV and mitomycin C resistance in Deinococcus radiodurans R1. 61
23840905 2013
15
Major soluble proteome changes in Deinococcus deserti over the earliest stages following gamma-ray irradiation. 61
23320389 2013
16
Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type. 61
21882205 2011
17
Comparison of the genomes of deinococcal species using oligonucleotide microarrays. 61
21193818 2010
18
Dyssegemental dyspalsia; Rolland-Desbuquois type--a case report from Pakistan. 61
20419979 2010
19
A new hybrid double divisor ratio spectra method for the analysis of ternary mixtures. 61
18093870 2008
20
Analysis of Deinococcus radiodurans's transcriptional response to ionizing radiation and desiccation reveals novel proteins that contribute to extreme radioresistance. 61
15454524 2004
21
Mutational analysis of the hydrolytic activity of yeast RNA polymerase III. 61
10409694 1999

Variations for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Expression for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Search GEO for disease gene expression data for Dyssegmental Dysplasia, Rolland-Desbuquois Type.

Pathways for Dyssegmental Dysplasia, Rolland-Desbuquois Type

GO Terms for Dyssegmental Dysplasia, Rolland-Desbuquois Type

Sources for Dyssegmental Dysplasia, Rolland-Desbuquois Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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