MCID: RHZ006
MIFTS: 12

Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Categories: Rare diseases

Aliases & Classifications for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

MalaCards integrated aliases for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

Name: Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 57 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
rhizomelic dysplasia, scoliosis, and retinitis pigmentosa:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

MalaCards based summary : Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa Affiliated tissues include bone, and related phenotypes are scoliosis and short neck

More information from OMIM: 610319

Related Diseases for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Symptoms & Phenotypes for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Human phenotypes related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 short neck 31 HP:0000470
3 visual impairment 31 HP:0000505
4 photophobia 31 HP:0000613
5 broad ribs 31 HP:0000885
6 strabismus 31 HP:0000486
7 reduced visual acuity 31 HP:0007663
8 rod-cone dystrophy 31 HP:0000510
9 short clavicles 31 HP:0000894
10 biconcave vertebral bodies 31 HP:0004586
11 rhizomelia 31 HP:0008905
12 amelogenesis imperfecta 31 HP:0000705
13 short humerus 31 HP:0005792
14 short ribs 31 HP:0000773
15 short femoral neck 31 HP:0100864
16 prominent deltoid tuberosities 31 HP:0003890

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Chest Ribs Sternum Clavicles And Scapulae:
short clavicles
short ribs
wide clavicles
wide ribs

Skeletal Limbs:
prominent deltoid tuberosities
short femoral necks
short humeri
rhizomelic shortening of the long bones, particularly the upper limbs
short distal ulnae
more
Skeletal:
normal bone age

Skeletal Pelvis:
irregular sacro-iliac joints

Head And Neck Eyes:
photophobia
strabismus
decreased visual acuity
retinitis pigmentosa

Skeletal Spine:
biconcave vertebral bodies
scoliosis, severe
narrowed lumbar canal

Growth Height:
short stature, postnatal

Head And Neck Teeth:
amelogenesis imperfecta (in 1 patient)

Clinical features from OMIM®:

610319 (Updated 05-Apr-2021)

Drugs & Therapeutics for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Genetic Tests for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Anatomical Context for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

MalaCards organs/tissues related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

40
Bone

Publications for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Articles related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

# Title Authors PMID Year
1
A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. 57
16770799 2006

Variations for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Expression for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Search GEO for disease gene expression data for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa.

Pathways for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

GO Terms for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Sources for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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