MCID: PSD030
MIFTS: 26

Pseudodiastrophic Dysplasia

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudodiastrophic Dysplasia

MalaCards integrated aliases for Pseudodiastrophic Dysplasia:

Name: Pseudodiastrophic Dysplasia 57 53 59 73
Pseudodiastrophic Dwarfism 53

Characteristics:

Orphanet epidemiological data:

59
pseudodiastrophic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
pseudodiastrophic dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 264180
Orphanet 59 ORPHA85174
MESH via Orphanet 45 C535826
UMLS via Orphanet 74 C0432206
ICD10 via Orphanet 34 Q78.8
MedGen 42 C0432206
UMLS 73 C0432206

Summaries for Pseudodiastrophic Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85174Disease definitionPseudodiastrophic 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pseudodiastrophic Dysplasia, also known as pseudodiastrophic dwarfism, is related to dwarfism and diastrophic dysplasia, and has symptoms including fever An important gene associated with Pseudodiastrophic Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include bone, heart and tongue, and related phenotypes are malar flattening and scoliosis

OMIM : 57 Pseudodiastrophic dysplasia is characterized by short-limbed short stature at birth, facial dysmorphism (hypertelorism, flat nose, prominent cheeks, micrognathia), cleft palate, and a distinctive skeletal phenotype including narrow thorax, scoliosis, rhizomelia, ulnar deviation of the wrist, proximal interphalangeal joint dislocation, dislocation of large joints, particularly of the elbows, and talipes equinovarus (summary by Yap et al., 2016). (264180)

Related Diseases for Pseudodiastrophic Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.0
2 diastrophic dysplasia 10.0
3 aging 10.0
4 skeletal dysplasias 10.0

Symptoms & Phenotypes for Pseudodiastrophic Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck
pterygium colli

Growth Other:
failure to thrive

Head And Neck Head:
brachycephaly

Head And Neck Eyes:
blue sclerae

Skeletal Feet:
clubfoot

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

Skeletal Spine:
scoliosis
platyspondyly
odontoid hypoplasia
c1-c2 dislocation
tongue-like lumbar vertebral deformities
more
Immunology:
recurrent infections

Head And Neck Nose:
anteverted nostrils

Skeletal Limbs:
elbow dislocations
rhizomelic short limbs

Metabolic Features:
hyperthermia

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

Human phenotypes related to Pseudodiastrophic Dysplasia:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
4 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
5 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
6 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
7 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
8 phalangeal dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0006243
9 short neck 32 HP:0000470
10 frontal bossing 32 HP:0002007
11 failure to thrive 32 HP:0001508
12 smooth philtrum 32 HP:0000319
13 anteverted nares 32 HP:0000463
14 fever 32 HP:0001945
15 brachycephaly 32 HP:0000248
16 micrognathia 32 HP:0000347
17 malformation of the heart and great vessels 59 Occasional (29-5%)
18 webbed neck 32 HP:0000465
19 recurrent infections 32 HP:0002719
20 severe short stature 32 HP:0003510
21 midface retrusion 32 HP:0011800
22 blue sclerae 32 HP:0000592
23 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
24 hypoplasia of the odontoid process 32 HP:0003311
25 lumbar hyperlordosis 32 HP:0002938
26 camptodactyly 32 HP:0012385
27 tongue-like lumbar vertebral deformities 32 HP:0005680

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:

41
Bone, Heart, Tongue

Publications for Pseudodiastrophic Dysplasia

Articles related to Pseudodiastrophic Dysplasia:

# Title Authors Year
1
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype. ( 26754439 )
2016
2
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia. ( 9415482 )
1997
3
Pseudodiastrophic dysplasia type Burgio in a newborn. ( 9217227 )
1997
4
Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature. ( 2288456 )
1990
5
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia. ( 3761077 )
1986

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 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
Content
Loading form....