U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ramon syndrome

MedGen UID:
208669
Concept ID:
C0796133
Disease or Syndrome
Synonyms: Cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth; Gingival fibromatosis combined with cherubism
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009954
OMIM®: 266270
Orphanet: ORPHA3019

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. [from ORDO]

Clinical features

From HPO
Gingival fibromatosis
MedGen UID:
42017
Concept ID:
C0016049
Finding
The presence of fibrosis of the gingiva.
Enlarged labia minora
MedGen UID:
340305
Concept ID:
C1849358
Finding
Increase in size of the folds of skin between the outer labia.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Decreased body weight
MedGen UID:
375512
Concept ID:
C1844806
Finding
Abnormally low body weight.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Juvenile rheumatoid arthritis
MedGen UID:
811462
Concept ID:
C3714757
Disease or Syndrome
An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Angiokeratoma
MedGen UID:
1542
Concept ID:
C0002985
Neoplastic Process
Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Axenfeld anomaly
MedGen UID:
78611
Concept ID:
C0266548
Congenital Abnormality
Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRamon syndrome
Follow this link to review classifications for Ramon syndrome in Orphanet.

Recent clinical studies

Etiology

Parkin B, Law C
Am J Med Genet 2001 Nov 22;104(2):131-4. doi: 10.1002/ajmg.1590. PMID: 11746043
de Pina-Neto JM, de Souza NV, Velludo MA, Perosa GB, de Freitas MM, Colafêmina JF
Am J Med Genet 1998 Apr 28;77(1):43-6. PMID: 9557893

Diagnosis

Ahmed A, Naidu A
J Clin Pathol 2021 Aug;74(8):483-490. Epub 2021 Apr 15 doi: 10.1136/jclinpath-2020-206858. PMID: 33858937
Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarbané A
Clin Genet 2018 Mar;93(3):703-706. Epub 2018 Jan 25 doi: 10.1111/cge.13166. PMID: 29095483
Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785
Suhanya J, Aggarwal C, Mohideen K, Jayachandran S, Ponniah I
Head Neck Pathol 2010 Jun;4(2):126-31. Epub 2009 Dec 11 doi: 10.1007/s12105-009-0155-9. PMID: 20512637Free PMC Article
Parkin B, Law C
Am J Med Genet 2001 Nov 22;104(2):131-4. doi: 10.1002/ajmg.1590. PMID: 11746043

Prognosis

Ahmed A, Naidu A
J Clin Pathol 2021 Aug;74(8):483-490. Epub 2021 Apr 15 doi: 10.1136/jclinpath-2020-206858. PMID: 33858937
Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785
Parkin B, Law C
Am J Med Genet 2001 Nov 22;104(2):131-4. doi: 10.1002/ajmg.1590. PMID: 11746043
de Pina-Neto JM, de Souza NV, Velludo MA, Perosa GB, de Freitas MM, Colafêmina JF
Am J Med Genet 1998 Apr 28;77(1):43-6. PMID: 9557893

Clinical prediction guides

Ahmed A, Naidu A
J Clin Pathol 2021 Aug;74(8):483-490. Epub 2021 Apr 15 doi: 10.1136/jclinpath-2020-206858. PMID: 33858937

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...