MCID: PSD030
MIFTS: 23

Pseudodiastrophic Dysplasia

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudodiastrophic Dysplasia

MalaCards integrated aliases for Pseudodiastrophic Dysplasia:

Name: Pseudodiastrophic Dysplasia 54 50 56 69
Pseudodiastrophic Dwarfism 50

Characteristics:

Orphanet epidemiological data:

56
pseudodiastrophic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 54 264180
Orphanet 56 ORPHA85174
MESH via Orphanet 43 C535826
UMLS via Orphanet 70 C0432206
ICD10 via Orphanet 34 Q78.8

Summaries for Pseudodiastrophic Dysplasia

NIH Rare Diseases : 50 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. last updated: 1/22/2007

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

OMIM : 54
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:

id Related Disease Score Top Affiliating Genes
1 diastrophic dysplasia 9.9
2 skeletal dysplasias 9.9
3 skeletal dysplasia 9.9

Symptoms & Phenotypes for Pseudodiastrophic Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Head And Neck- Nose:
anteverted nostrils

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

Head And Neck- Head:
brachycephaly

Skeletal- Feet:
clubfoot

Skeletal- Limbs:
elbow dislocations
rhizomelic short limbs

Growth- Height:
short stature, short-limbed

Chest- Ribs Sternum Clavicles And Scapulae:
flared ribs, anteriorly

Skin Nails & Hair- Nails:
hypoplastic thumb nail

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

Head And Neck- Neck:
short neck
pterygium colli

Metabolic Features:
hyperthermia

Head And Neck- Eyes:
blue sclerae

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

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

Skeletal- Skull:
enlarged bitemporal diameter


Clinical features from OMIM:

264180

Human phenotypes related to Pseudodiastrophic Dysplasia:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 platyspondyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000926
3 elbow dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0003042
4 talipes equinovarus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001762
5 omphalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0001539
6 rhizomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008905
7 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
8 phalangeal dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0006243
9 lumbar hyperlordosis 32 HP:0002938
10 fever 32 HP:0001945
11 midface retrusion 32 HP:0011800
12 tongue-like lumbar vertebral deformities 32 HP:0005680
13 malformation of the heart and great vessels 56 Occasional (29-5%)
14 severe short stature 32 HP:0003510
15 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
16 hypoplasia of the odontoid process 32 HP:0003311

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:

39
Bone, Heart, Tongue

Publications for Pseudodiastrophic Dysplasia

Articles related to Pseudodiastrophic Dysplasia:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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