PDD
MCID: PSD030
MIFTS: 28

Pseudodiastrophic Dysplasia (PDD)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pseudodiastrophic Dysplasia

MalaCards integrated aliases for Pseudodiastrophic Dysplasia:

Name: Pseudodiastrophic Dysplasia 57 20 58 70
Pseudodiastrophic Dwarfism 20
Pdd 57

Characteristics:

Orphanet epidemiological data:

58
pseudodiastrophic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
cartilage shows irregular myxoid degeneration with small cystic areas
many patients die in neonatal period


HPO:

31
pseudodiastrophic dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 264180
MESH via Orphanet 45 C535826
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 71 C0432206
Orphanet 58 ORPHA85174
MedGen 41 C0432206
UMLS 70 C0432206

Summaries for Pseudodiastrophic Dysplasia

OMIM® : 57 Pseudodiastrophic dysplasia (PDD) is an extremely rare and severe skeletal dysplasia associated with prenatal manifestation and early lethality. Phenotypic features include short-limbed short stature at birth, facial dysmorphism, and distinctive skeletal abnormalities including short ribs, mild to moderate platyspondyly, shortened long bones with metaphyseal flaring, elongation of the proximal and middle phalanges with subluxation of the proximal interphalangeal joints, subluxation of the elbow, and talipes equinovarus (summary by Byrne et al., 2020). Based on genetic analysis of patients with a clinical diagnosis of PDD, Byrne et al. (2020) proposed that PDD is likely not a separate genetic disorder, but rather the most severe phenotypic manifestation of skeletal dysplasia arising from defects in proteoglycan (PG) biosynthesis (see MOLECULAR GENETICS). (264180) (Updated 20-May-2021)

MalaCards based summary : Pseudodiastrophic Dysplasia, also known as pseudodiastrophic dwarfism, is related to atypical autism and pervasive developmental disorder, and has symptoms including fever An important gene associated with Pseudodiastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include tongue, heart and liver, and related phenotypes are scoliosis and talipes equinovarus

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85174 Definition Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.

Related Diseases for Pseudodiastrophic Dysplasia

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

(showing 76, show less)
# Related Disease Score Top Affiliating Genes
1 atypical autism 11.4
2 pervasive developmental disorder 11.3
3 camurati-engelmann disease 11.3
4 autism 11.1
5 childhood disintegrative disease 11.0
6 autism x-linked 1 11.0
7 autism x-linked 2 11.0
8 autism x-linked 3 11.0
9 autism x-linked 4 11.0
10 autism x-linked 5 11.0
11 autism x-linked 6 11.0
12 autism 8 11.0
13 autism 3 11.0
14 autism 6 11.0
15 autism 7 11.0
16 autism 11 11.0
17 autism 12 11.0
18 autism 13 11.0
19 autism 9 11.0
20 autism 10 11.0
21 autism 15 11.0
22 autism 16 11.0
23 autism 17 11.0
24 autism 18 11.0
25 rare pervasive developmental disorder 10.9
26 asperger syndrome 10.9
27 parkinsonism 10.8
28 dysthymic disorder 10.8
29 autism spectrum disorder 10.4
30 diastrophic dysplasia 10.3
31 attention deficit-hyperactivity disorder 10.3
32 osteochondrodysplasia 10.3
33 dementia 10.2
34 dwarfism 10.2
35 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 10.2
36 scoliosis 10.2
37 bladder cancer 10.2
38 parkinson disease, late-onset 10.1
39 desbuquois dysplasia 1 10.0
40 omphalocele 10.0
41 desbuquois dysplasia 10.0
42 clubfoot 10.0
43 alzheimer disease 10.0
44 alacrima, achalasia, and mental retardation syndrome 10.0
45 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.0
46 mild cognitive impairment 10.0
47 in situ carcinoma 10.0
48 multiple system atrophy 1 9.8
49 prader-willi syndrome 9.8
50 dowling-degos disease 1 9.8
51 down syndrome 9.8
52 gaucher disease, type i 9.8
53 fragile x syndrome 9.8
54 rett syndrome 9.8
55 supranuclear palsy, progressive, 1 9.8
56 yemenite deaf-blind hypopigmentation syndrome 9.8
57 anxiety 9.8
58 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.8
59 oppositional defiant disorder 9.8
60 cortical blindness 9.8
61 generalized anxiety disorder 9.8
62 gaucher's disease 9.8
63 hepatitis b 9.8
64 psychotic disorder 9.8
65 transitional cell carcinoma 9.8
66 endometriosis 9.8
67 acute pancreatitis 9.8
68 movement disease 9.8
69 liver cirrhosis 9.8
70 cervix uteri carcinoma in situ 9.8
71 bladder carcinoma in situ 9.8
72 developmental coordination disorder 9.8
73 bowen's disease 9.8
74 cervical intraepithelial neoplasia 9.8
75 developmental dyspraxia 9.8
76 seizure disorder 9.8

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



Diseases related to Pseudodiastrophic Dysplasia

Symptoms & Phenotypes for Pseudodiastrophic Dysplasia

Human phenotypes related to Pseudodiastrophic Dysplasia:

58 31 (showing 27, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
3 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
5 elbow dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003042
6 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
7 phalangeal dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0006243
8 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
9 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
10 failure to thrive 31 HP:0001508
11 frontal bossing 31 HP:0002007
12 short neck 31 HP:0000470
13 smooth philtrum 31 HP:0000319
14 anteverted nares 31 HP:0000463
15 fever 31 HP:0001945
16 brachycephaly 31 HP:0000248
17 malformation of the heart and great vessels 58 Occasional (29-5%)
18 micrognathia 31 HP:0000347
19 webbed neck 31 HP:0000465
20 blue sclerae 31 HP:0000592
21 midface retrusion 31 HP:0011800
22 recurrent infections 31 HP:0002719
23 hypoplasia of the odontoid process 31 HP:0003311
24 severe short stature 31 HP:0003510
25 camptodactyly 31 HP:0012385
26 lumbar hyperlordosis 31 HP:0002938
27 tongue-like lumbar vertebral deformities 31 HP:0005680

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Skeletal Spine:
scoliosis
platyspondyly
tongue-like lumbar vertebral deformities
odontoid hypoplasia
c1-c2 dislocation
more
Head And Neck Head:
brachycephaly

Immunology:
recurrent infections

Head And Neck Nose:
anteverted nostrils

Skeletal Hands:
ulnar deviation of fingers
interphalangeal joint dislocations
camptodactyly, bilateral
metacarpophalangeal joint dislocations with normal first metacarpal

Growth Height:
short stature, short-limbed

Chest External Features:
small asymmetric chest

Skeletal Skull:
enlarged bitemporal diameter

Head And Neck Face:
frontal bossing
smooth philtrum
micrognathia
midface hypoplasia
round, chubby face

Head And Neck Neck:
short neck
pterygium colli

Head And Neck Eyes:
blue sclerae

Metabolic Features:
hyperthermia

Skeletal Limbs:
elbow dislocations
rhizomelic short limbs

Skeletal Feet:
clubfoot

Head And Neck Ears:
abnormal folding of superior helix
abnormal folding of antitragus

Chest Ribs Sternum Clavicles And Scapulae:
flared ribs, anteriorly

Skin Nails Hair Nails:
hypoplastic thumb nail

Clinical features from OMIM®:

264180 (Updated 20-May-2021)

UMLS symptoms related to Pseudodiastrophic Dysplasia:


fever

Drugs & Therapeutics for Pseudodiastrophic Dysplasia

Search Clinical Trials , NIH Clinical Center for Pseudodiastrophic Dysplasia

Genetic Tests for Pseudodiastrophic Dysplasia

Anatomical Context for Pseudodiastrophic Dysplasia

MalaCards organs/tissues related to Pseudodiastrophic Dysplasia:

40
Tongue, Heart, Liver, Cervix

Publications for Pseudodiastrophic Dysplasia

Articles related to Pseudodiastrophic Dysplasia:

(showing 10, show less)
# Title Authors PMID Year
1
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 57 61
31988067 2020
2
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. 61 57
9415482 1997
3
Pseudodiastrophic dysplasia type Burgio in a newborn. 61 57
9217227 1997
4
Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature. 61 57
2288456 1990
5
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia. 57 61
3761077 1986
6
[Pseudodiastrophic dwarfism: a case report]. 61 57
536739 1979
7
[Pseudodiastrophic dwarfism. Study of 2 newborn sisters]. 61 57
4217148 1974
8
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 57
7923357 1994
9
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype. 61
26754439 2016
10
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. 61
25019053 2014

Variations for Pseudodiastrophic Dysplasia

Expression for Pseudodiastrophic Dysplasia

Search GEO for disease gene expression data for Pseudodiastrophic Dysplasia.

Pathways for Pseudodiastrophic Dysplasia

GO Terms for Pseudodiastrophic Dysplasia

Sources for Pseudodiastrophic 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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