MCID: RMN002
MIFTS: 26

Ramon Syndrome

Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Ramon Syndrome

MalaCards integrated aliases for Ramon Syndrome:

Name: Ramon Syndrome 57 20 58 70
Cherubism, Gingival Fibromatosis, Epilepsy, Mental Deficiency, Hypertrichosis, and Stunted Growth 57 20
Cherubism-Gingival Fibromatosis-Intellectual Disability Syndrome 58
Gingival Fibromatosis Combined with Cherubism 20

Characteristics:

Orphanet epidemiological data:

58
ramon syndrome
Inheritance: Autosomal recessive;

OMIM®:

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


HPO:

31
ramon syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Ramon Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3019 Definition A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.

MalaCards based summary : Ramon Syndrome, also known as cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth, is related to cherubism and fibromatosis, gingival, 1, and has symptoms including seizures An important gene associated with Ramon Syndrome is ELMO2 (Engulfment And Cell Motility 2). Affiliated tissues include skin, and related phenotypes are intellectual disability and failure to thrive

More information from OMIM: 266270

Related Diseases for Ramon Syndrome

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 cherubism 11.1
2 fibromatosis, gingival, 1 10.2
3 gingival overgrowth 10.2
4 gingival fibromatosis 10.2
5 hypertrichosis 10.2
6 fibromatosis 10.2
7 fibrous dysplasia 10.1
8 alacrima, achalasia, and mental retardation syndrome 9.9
9 umbilical hernia 9.9
10 epilepsy 9.9
11 hemangioma 9.9
12 juvenile rheumatoid arthritis 9.9
13 posttransplant acute limbic encephalitis 9.9
14 overgrowth syndrome 9.9

Graphical network of the top 20 diseases related to Ramon Syndrome:



Diseases related to Ramon Syndrome

Symptoms & Phenotypes for Ramon Syndrome

Human phenotypes related to Ramon Syndrome:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000189
4 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
5 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
6 gingival fibromatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000169
7 seizure 31 hallmark (90%) HP:0001250
8 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
9 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
10 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
11 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
12 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
13 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
14 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
15 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
16 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
17 abnormal anterior chamber morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000593
18 seizures 58 Very frequent (99-80%)
19 scoliosis 31 HP:0002650
20 kyphosis 31 HP:0002808
21 hearing impairment 31 HP:0000365
22 short stature 31 HP:0004322
23 angiokeratoma 31 HP:0001014
24 decreased body weight 31 HP:0004325
25 optic disc pallor 31 HP:0000543
26 pigmentary retinopathy 31 HP:0000580
27 telangiectasia 31 HP:0001009
28 hypertrichosis 31 HP:0000998
29 juvenile rheumatoid arthritis 31 HP:0005681
30 enlarged labia minora 31 HP:0008683
31 axenfeld anomaly 31 HP:0001492

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
mental retardation

Head And Neck Mouth:
narrow palate
gingival fibromatosis (onset 2 years)
gingival biopsy shows hyperkeratosis, acanthosis, papillomatosis

Head And Neck Eyes:
pigmentary retinopathy
axenfeld anomaly
pale optic disc

Head And Neck Ears:
hearing loss

Growth Weight:
weight less than 3rd percentile

Genitourinary External Genitalia Female:
hypertrophic labia minora (fibroepithelial hyperplasia)

Skin Nails Hair Skin:
telangiectasia (soles)
angiokeratomas (soles)

Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Skin Nails Hair Hair:
hypertrichosis

Head And Neck Teeth:
delayed tooth eruption

Head And Neck Face:
cherubism (fibrous dysplasia of maxillae and mandible)

Skeletal:
rheumatoid arthritis, juvenile

Clinical features from OMIM®:

266270 (Updated 05-Apr-2021)

UMLS symptoms related to Ramon Syndrome:


seizures

Drugs & Therapeutics for Ramon Syndrome

Search Clinical Trials , NIH Clinical Center for Ramon Syndrome

Genetic Tests for Ramon Syndrome

Anatomical Context for Ramon Syndrome

MalaCards organs/tissues related to Ramon Syndrome:

40
Skin

Publications for Ramon Syndrome

Articles related to Ramon Syndrome:

# Title Authors PMID Year
1
Axenfeld anomaly and retinal changes in Ramon syndrome: follow-up of two sibs. 57 61
11746043 2001
2
Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family. 57 61
9557893 1998
3
Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs. 61 57
1342855 1992
4
Ramon Syndrome- A Rare Form of Cherubism. 61
31909027 2019
5
Homozygous mutation in ELMO2 may cause Ramon syndrome. 61
29095483 2018
6
Current concepts on gingival fibromatosis-related syndromes. 61
25426785 2011
7
Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report. 61
20512637 2010
8
[Familial fibrous dysplasia: a symptom of a syndrome or simply of cherubism?]. 61
21427816 2010
9
Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. 61
3789007 1986

Variations for Ramon Syndrome

Expression for Ramon Syndrome

Search GEO for disease gene expression data for Ramon Syndrome.

Pathways for Ramon Syndrome

GO Terms for Ramon Syndrome

Sources for Ramon Syndrome

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
Content
Loading form....