HRS
MCID: RMR001
MIFTS: 24

Ramer Ladda Syndrome (HRS)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ramer Ladda Syndrome

MalaCards integrated aliases for Ramer Ladda Syndrome:

Name: Ramer Ladda Syndrome 53 72
Humero-Radial Synostosis 53 59
Humero-Radial Fusion 59
Hrs 53

Characteristics:

Orphanet epidemiological data:

59
humero-radial synostosis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q74.0
UMLS via Orphanet 73 C0431800
Orphanet 59 ORPHA3265
UMLS 72 C2930865

Summaries for Ramer Ladda Syndrome

MalaCards based summary : Ramer Ladda Syndrome, also known as humero-radial synostosis, is related to samson gardner syndrome and lymphoma, hodgkin, classic. Affiliated tissues include bone and eye, and related phenotypes are elbow ankylosis and elbow dislocation

Related Diseases for Ramer Ladda Syndrome

Diseases related to Ramer Ladda Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 489)
# Related Disease Score Top Affiliating Genes
1 samson gardner syndrome 11.9
2 lymphoma, hodgkin, classic 11.8
3 marie unna congenital hypotrichosis 11.7
4 humeroradial synostosis 11.7
5 hepatorenal syndrome 11.6
6 obsolete: humero-radial synostosis, unilateral 11.6
7 obsolete: humero-radial synostosis, bilateral 11.6
8 atrichia with papular lesions 11.5
9 hypotrichosis 4 11.5
10 alopecia universalis congenita 11.5
11 dentatorubral-pallidoluysian atrophy 11.4
12 rh-null, amorph type 11.2
13 bloom syndrome 11.2
14 aspiration pneumonitis 11.2
15 oropharynx cancer 11.2
16 synostosis 10.9
17 antley-bixler syndrome 10.5
18 craniosynostosis 10.5
19 microcephaly 10.5
20 cervical cancer 10.4
21 epicanthus 10.3
22 hypertelorism 10.3
23 chromosome 2q35 duplication syndrome 10.3
24 ulnar hypoplasia 10.3
25 humeroradial synostosis with craniofacial anomalies 10.3
26 microcephaly with simplified gyral pattern 10.3
27 fryns hofkens fabry syndrome 10.3
28 cervix uteri carcinoma in situ 10.3
29 cervical intraepithelial neoplasia 10.3
30 syncope 10.3
31 48,xyyy 10.3
32 cardiac conduction defect 10.3
33 atrial fibrillation 10.2
34 breast cancer 10.2
35 cardiac arrhythmia 10.2
36 heart valve disease 10.2
37 arteries, anomalies of 10.2
38 hyperlipoproteinemia, type iii 10.2
39 chronic venous insufficiency 10.2
40 venous insufficiency 10.2
41 coronary artery anomaly 10.2
42 neutropenia 10.2
43 haemophilus influenzae 10.2
44 osteoporosis 10.1
45 suppressor of tumorigenicity 3 10.1
46 squamous cell papilloma 10.1
47 papilloma 10.1
48 bone mineral density quantitative trait locus 8 10.1
49 bone mineral density quantitative trait locus 15 10.1
50 keratoconus 10.1

Graphical network of the top 20 diseases related to Ramer Ladda Syndrome:



Diseases related to Ramer Ladda Syndrome

Symptoms & Phenotypes for Ramer Ladda Syndrome

Human phenotypes related to Ramer Ladda Syndrome:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elbow ankylosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003070
2 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
3 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
5 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
6 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
7 aplasia/hypoplasia affecting the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0008056
8 tarsal synostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008368
9 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009601
10 abnormality of the wrist 59 32 occasional (7.5%) Occasional (29-5%) HP:0003019
11 limitation of joint mobility 59 Very frequent (99-80%)

Drugs & Therapeutics for Ramer Ladda Syndrome

Search Clinical Trials , NIH Clinical Center for Ramer Ladda Syndrome

Genetic Tests for Ramer Ladda Syndrome

Anatomical Context for Ramer Ladda Syndrome

MalaCards organs/tissues related to Ramer Ladda Syndrome:

41
Bone, Eye

Publications for Ramer Ladda Syndrome

Articles related to Ramer Ladda Syndrome:

(show all 14)
# Title Authors PMID Year
1
Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly. 38
29427337 2018
2
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs. 38
18553517 2008
3
Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome. 38
17304553 2007
4
Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: a new syndrome? 38
8669448 1996
5
FFU complex: an analysis of 491 cases. 38
8500790 1993
6
Humero-radial synostosis with ulnar defects in sibs. 38
2669480 1989
7
Fascial arthroplasty for elbow ankylosis. 38
6853090 1983
8
Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. 38
6829602 1983
9
Prenatal ultrasound detection of humero-radial synostosis in a case of Antley-Bixler syndrome. 38
7145849 1982
10
Humero-radial synostosis. 38
627108 1978
11
[2 cases of congenital humero-radial synostosis]. 38
24149 1978
12
[Congenital humero-radial synostosis. Observations in 2 siblings]. 38
634253 1978
13
The genetics of and associated clinical findings in humero-radial synostosis. 38
1269169 1976
14
[Congenital bilateral humero-radial synostosis. Case report]. 38
5146309 1971

Variations for Ramer Ladda Syndrome

Expression for Ramer Ladda Syndrome

Search GEO for disease gene expression data for Ramer Ladda Syndrome.

Pathways for Ramer Ladda Syndrome

GO Terms for Ramer Ladda Syndrome

Sources for Ramer Ladda Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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