MCID: PLV018
MIFTS: 16

Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

MalaCards integrated aliases for Pelvic Hypoplasia with Lower-Limb Arthrogryposis:

Name: Pelvic Hypoplasia with Lower-Limb Arthrogryposis 56
Pelvic Dysplasia-Arthrogryposis of Lower Limbs Syndrome 58
Pelvic Hypoplasia with Arthrogryposis of Lower Limbs 52
Pelvic Hypoplasia with Lower Limb Arthrogryposis 52
Pelvic Dysplasia Arthrogryposis of Lower Limbs 52
Ray-Peterson-Scott Syndrome 58
Ray Peterson Scott Syndrome 71

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 602484
MESH via Orphanet 44 C535292 C535548
UMLS via Orphanet 72 C1865294 C2930869
Orphanet 58 ORPHA2840
MedGen 41 C1865294
UMLS 71 C2930869

Summaries for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2840 Definition Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis , and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs. Visit the Orphanet disease page for more resources.

MalaCards based summary : Pelvic Hypoplasia with Lower-Limb Arthrogryposis, is also known as pelvic dysplasia-arthrogryposis of lower limbs syndrome. Affiliated tissues include bone and skeletal muscle, and related phenotypes are depressed nasal bridge and gait disturbance

More information from OMIM: 602484

Related Diseases for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Symptoms & Phenotypes for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Human phenotypes related to Pelvic Hypoplasia with Lower-Limb Arthrogryposis:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
4 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
5 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
6 hypoplastic pelvis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008839
7 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
8 spina bifida occulta 58 31 frequent (33%) Frequent (79-30%) HP:0003298
9 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
10 sacrococcygeal pilonidal abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0010767
11 arthrogryposis multiplex congenita 31 HP:0002804

Clinical features from OMIM:

602484

Drugs & Therapeutics for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Search Clinical Trials , NIH Clinical Center for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Genetic Tests for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Anatomical Context for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

MalaCards organs/tissues related to Pelvic Hypoplasia with Lower-Limb Arthrogryposis:

40
Bone, Skeletal Muscle

Publications for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Articles related to Pelvic Hypoplasia with Lower-Limb Arthrogryposis:

# Title Authors PMID Year
1
Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: a distinct autosomal-recessive disorder. 56
9489787 1998

Variations for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Expression for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Search GEO for disease gene expression data for Pelvic Hypoplasia with Lower-Limb Arthrogryposis.

Pathways for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

GO Terms for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

Sources for Pelvic Hypoplasia with Lower-Limb Arthrogryposis

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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