MCID: RHZ006
MIFTS: 14

Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Categories: Rare diseases
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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 19 75

Characteristics:


Inheritance:

Autosomal recessive 57

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

Wikipedia: 75 Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is... more...

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:

30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 HP:0002650
2 short neck 30 HP:0000470
3 visual impairment 30 HP:0000505
4 photophobia 30 HP:0000613
5 broad ribs 30 HP:0000885
6 strabismus 30 HP:0000486
7 reduced visual acuity 30 HP:0007663
8 rod-cone dystrophy 30 HP:0000510
9 short clavicles 30 HP:0000894
10 biconcave vertebral bodies 30 HP:0004586
11 rhizomelia 30 HP:0008905
12 amelogenesis imperfecta 30 HP:0000705
13 short humerus 30 HP:0005792
14 short ribs 30 HP:0000773
15 short femoral neck 30 HP:0100864
16 prominent deltoid tuberosities 30 HP:0003890

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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

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

MalaCards : 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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