MCID: CMP074
MIFTS: 19

Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

MalaCards integrated aliases for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye:

Name: Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 56 52
Rozin Hertz Goodman Syndrome 52 71
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome 58
Camptodactyly, Joint Contractures, Facial Skeletal Defects 52
Rozin-Hertz-Goodman Syndrome 58
Rozin-Camptodactyly Syndrome 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 602612
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C2931051
Orphanet 58 ORPHA1323
UMLS 71 C2931051

Summaries for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1323 Definition Camptodactyly-joint contractures -facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis , flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Epidemiology Only four cases have been reported in the literature so far. Genetic counseling The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered. Visit the Orphanet disease page for more resources.

MalaCards based summary : Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye, is also known as rozin hertz goodman syndrome. Affiliated tissues include eye and bone, and related phenotypes are narrow palate and scoliosis

More information from OMIM: 602612

Related Diseases for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

Symptoms & Phenotypes for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

Human phenotypes related to Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000189
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
6 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
7 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
8 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
9 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
12 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
13 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
14 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
15 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
16 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
17 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
18 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
19 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
20 asymmetric growth 58 31 hallmark (90%) Very frequent (99-80%) HP:0100555
21 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
22 abnormality of calvarial morphology 58 Very frequent (99-80%)

Clinical features from OMIM:

602612

Drugs & Therapeutics for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

Search Clinical Trials , NIH Clinical Center for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye

Genetic Tests for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

Anatomical Context for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

MalaCards organs/tissues related to Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye:

40
Eye, Bone

Publications for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

Articles related to Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye:

# Title Authors PMID Year
1
Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome. 61 56
16688750 2006
2
Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: autosomal recessive entity? 56
9557890 1998
3
A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly. 56
6437708 1984

Variations for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

Expression for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

Search GEO for disease gene expression data for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye.

Pathways for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

GO Terms for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

Sources for Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle...

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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